PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_018489.2:
Concise orientation only. Dates, normal findings, uncertainty, source boundaries, and longitudinal context remain in the complete profile.
Molecular result and profile context
- Report transcript + cDNA
- NM_018489.2:c.7357T>C
- Report protein consequence
- p.Ser2453Pro
- Zygosity
- Heterozygous
- Molecular consequence
- Missense
- Laboratory classification
- Likely pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Inheritance source
- Original report reviewed
- Relevant additional finding
- Additional genetic findings were caregiver-reported; details were not established
- Normalized MANE/map notation
- NM_018489.3:c.7357T>C · NP_060959.2:p.Ser2453Pro
- Variant type
- Missense
- Sex
- Female
- Age group
- Ages 16–20
- Protein position
- Amino-acid substitution · aa 2,453
Approved public summary
A girl in the 16–20 age group with the ASH1L missense variant NM_018489.2:c.7357T>C, p.Ser2453Pro, and a complex history shaped by autism, severe sensory-based food restriction, earlier failure to thrive, pica, fasting-associated hypoglycemia with ketosis, cyclic vomiting syndrome, chronic constipation, marked impulsivity and elopement risk, thyroid autoantibodies, and significant premenstrual symptoms. She is also determined, musical, socially interested, and strongly motivated by the people and cultures she cares about. Predictability, concrete communication, longstanding therapeutic relationships, firm boundaries, and a well-matched medication regimen have brought meaningful gains in anxiety and regulation.