ASH1L LONGITUDINAL CASE PROFILE

Report transcript + cDNA

NM_018489.3:c.1892_1893del

Report protein consequencep.Lys631Argfs*4

Normalized MANE/map notationNM_018489.3:c.1892_1893del · NP_060959.2:p.Lys631Argfs*4

A girl in the 16–20 age group. An adult woman in the 16–20 age group whose lifelong history includes developmental, learning, memory, sleep, muscle-tone, energy, hunger-awareness, pain-expression, and emotional-health differences. She also reads and writes, studies graphic design, uses computers confidently, has developed friendships, has participated in equestrian activities since childhood, and wants belonging, community, relationships, and a fuller adult life.

Profile at a glance

20 sections · 5 chapters

Zygosity: Heterozygous
Molecular consequence: Frameshift with premature termination
Laboratory classification: Likely pathogenic
Classification source: Original report reviewed
Inheritance: Not established
Inheritance source: Original report reviewed
Parental testing: The variant was not detected in her mother; her father's result has not been reported, so inheritance remains unresolved.
Relevant additional finding: Eight heterozygous other findings were reported; none was interpreted as establishing a second molecular diagnosis
Variant type: Frameshift
Sex: Female
Age group: Ages 16–20
Protein position: First altered residue · aa 631

The reviewed laboratory report classified this molecular result as likely pathogenic. The molecular result anchors this profile; the longitudinal history preserves the individual pattern across systems, abilities, and time.

ASH1L LONGITUDINAL CASE PROFILE

Report transcript + cDNA

NM_018489.3:c.1892_1893del

Report protein consequencep.Lys631Argfs*4

Normalized MANE/map notationNM_018489.3:c.1892_1893del · NP_060959.2:p.Lys631Argfs*4

Profile at a glance

20 sections · 5 chapters

Zygosity: Heterozygous
Molecular consequence: Frameshift with premature termination
Laboratory classification: Likely pathogenic
Classification source: Original report reviewed
Inheritance: Not established
Inheritance source: Original report reviewed
Parental testing: The variant was not detected in her mother; her father's result has not been reported, so inheritance remains unresolved.
Relevant additional finding: Eight heterozygous other findings were reported; none was interpreted as establishing a second molecular diagnosis
Variant type: Frameshift
Sex: Female
Age group: Ages 16–20
Protein position: First altered residue · aa 631

Genetic finding and diagnosis
Report field	Result
Transcript	NM_018489.3
DNA change	c.1892_1893del
Protein change	p.(Lys631Argfs*4)
Reported location	Exon 3
Classification	Likely pathogenic
Reported criteria

Reported variant allele fraction	55.7%

Testing context, mitochondrial differential, and other genomic findings
Gene	Reported variant	Laboratory classification	Clinical meaning
VPS51	NM_013265.4:c.1811_1812del; p.(Leu604ArgfsTer80)	Likely pathogenic	A single finding associated with a recessive condition; interpreted as carrier status rather than a diagnosis
EVC	NM_153717.3:c.1315+1G>T; p.?	Likely pathogenic	A single finding associated with recessive Ellis-van Creveld syndrome; the report also noted a preliminary dominant association and advised cautious clinical correlation
CRYBB1	NM_001887.4:c.214_221del; p.(Arg73IlefsTer30)	Likely pathogenic	CRYBB1-related cataract has recessive and dominant associations; the report advised clinical correlation rather than treating this as a confirmed diagnosis
THUMPD1	NM_017736.5:c.130C>T; p.(Gln44Ter)	Likely pathogenic	A single finding associated with a recessive neurodevelopmental condition; interpreted as carrier status rather than a diagnosis
UNC45A	NM_018671.5:c.1508_1580dup; p.(Lys528Ter)	Likely pathogenic	A single finding associated with a recessive osteo-oto-hepato-enteric condition; interpreted as carrier status rather than a diagnosis
SERPINA1	NM_000295.5:c.863A>T; p.(Glu288Val)	Pathogenic	The PI*S allele in heterozygous form; generally interpreted as carrier status rather than severe biallelic alpha-1 antitrypsin deficiency
POLG	NM_002693.3:c.3287G>A; p.(Arg1096His)	Pathogenic in the report; ClinVar field noted no consensus	A single finding does not establish a recessive POLG disorder; because POLG also has a dominant disease association, the report advised cautious clinical correlation
MUTYH	NM_001048174.2:c.1103G>A; p.(Gly368Asp)	Pathogenic	A monoallelic carrier finding for recessive MUTYH-associated polyposis, not a molecular diagnosis of that condition

Testing context, mitochondrial differential, and other genomic findings

Gene

Reported variant

Laboratory classification

Clinical meaning

VPS51

NM_013265.4:c.1811_1812del; p.(Leu604ArgfsTer80)

Likely pathogenic

A single finding associated with a recessive condition; interpreted as carrier status rather than a diagnosis

EVC

NM_153717.3:c.1315+1G>T; p.?

Likely pathogenic

A single finding associated with recessive Ellis-van Creveld syndrome; the report also noted a preliminary dominant association and advised cautious clinical correlation

CRYBB1

NM_001887.4:c.214_221del; p.(Arg73IlefsTer30)

Likely pathogenic

CRYBB1-related cataract has recessive and dominant associations; the report advised clinical correlation rather than treating this as a confirmed diagnosis

THUMPD1

NM_017736.5:c.130C>T; p.(Gln44Ter)

Likely pathogenic

A single finding associated with a recessive neurodevelopmental condition; interpreted as carrier status rather than a diagnosis

UNC45A

NM_018671.5:c.1508_1580dup; p.(Lys528Ter)

Likely pathogenic

A single finding associated with a recessive osteo-oto-hepato-enteric condition; interpreted as carrier status rather than a diagnosis

SERPINA1

NM_000295.5:c.863A>T; p.(Glu288Val)

Pathogenic

The PI*S allele in heterozygous form; generally interpreted as carrier status rather than severe biallelic alpha-1 antitrypsin deficiency

POLG

NM_002693.3:c.3287G>A; p.(Arg1096His)

Pathogenic in the report; ClinVar field noted no consensus

A single finding does not establish a recessive POLG disorder; because POLG also has a dominant disease association, the report advised cautious clinical correlation

MUTYH

NM_001048174.2:c.1103G>A; p.(Gly368Asp)

Pathogenic

A monoallelic carrier finding for recessive MUTYH-associated polyposis, not a molecular diagnosis of that condition

NM_018489.3:c.1892_1893del

NM_018489.3:c.1892_1893del

Who she is

Genetic finding and diagnosis

Testing context, mitochondrial differential, and other genomic findings

Birth, feeding, sleep, and infancy

Early movement, communication, therapies, and childhood diagnoses

Memory and understanding time

Reading, writing, mathematics, and learning supports

School, graphic design, daily life, and support

Friendship, belonging, and adult goals

Sleep, fatigue, weakness, and low tone

Movement and sensory regulation

A persistent repetitive movement of unresolved classification

Clinical seizure history, EEGs, and an isolated fixed-stare event

Emotional and psychiatric health

Hunger awareness, digestion, pain, and illness signaling

Teeth and oral health

Heart rhythm and planned evaluation

Medication history and observed responses

Current picture and family priorities

The whole person