PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_018489.3:
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_018489.3:c.7927C>T
- Report protein consequence
- p.Pro2643Ser
- Zygosity
- Heterozygous
- Molecular consequence
- Missense
- Laboratory classification
- Variant of uncertain significance
- Classification source
- Family-reported formal result
- Inheritance
- Not established
- Relevant additional finding
- Separate NFIB finding reported; contribution to macrocephaly remains separate
- Normalized MANE/map notation
- NM_018489.3:c.7927C>T · NP_060959.2:p.Pro2643Ser
- Variant type
- Missense
- Sex
- Male
- Age group
- Ages 1–5
- Protein position
- Amino-acid substitution · aa 2,643
Approved public summary
This is the story of a boy in the 1–5 age group with an ASH1L missense variant classified as a variant of uncertain significance. He has hypotonia, autism, a history of substantially delayed speech that is now developing into functional spoken communication, a history of severe food-allergy-associated gastrointestinal illness, chronic trigger-associated rhinorrhea and open-mouth sleep, reduced pain response, and soft, translucent, stretchy skin in the context of a maternal connective-tissue history. He also has macrocephaly, which his family relates to a separate NFIB finding. Over the most recent six months, he has made major gains in communication, regulation, safety, toileting, motor skills, navigation, and preschool participation. His family describes him as calm, affectionate, physically strong, active, and increasingly independent in everyday routines.