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.340A>G
- Report protein consequence
- p.Thr114Ala
- Zygosity
- Heterozygous
- Molecular consequence
- Missense
- Laboratory classification
- Variant of uncertain significance
- Classification source
- Family-reported formal result
- Inheritance
- Not established
- Relevant additional finding
- KDM1A NM_001009999.3:c.142G>T, p.(Ala48Ser) — separate VUS; inheritance not established
- Normalized MANE/map notation
- NM_018489.3:c.340A>G · NP_060959.2:p.Thr114Ala
- Variant type
- Missense
- Sex
- Male
- Age group
- Ages 11–15
- Protein position
- Amino-acid substitution · aa 114
Approved public summary
A boy in the 11–15 age group whose family has built a broad communication and participation program around school, AAC, frequent speech-language therapy, occupational therapy, ABA, physical activity, and motor-speech support. His history also includes a family-reported absence event, a family-reported prior left-temporal EEG finding, and a later 12-hour EEG. His 2022 exome identified two separate variants of uncertain significance—one in ASH1L and one in KDM1A—and neither currently establishes a molecular diagnosis.