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.3808C>T
- Report protein consequence
- p.Arg1270*
- Zygosity
- Heterozygous
- Molecular consequence
- Nonsense / stop-gain
- Laboratory classification
- Pathogenic
- Classification source
- Owner-approved current public/governed decision
- Inheritance
- De novo
- Relevant additional finding
- Not reported in this public profile
- Normalized MANE/map notation
- NM_018489.3:c.3808C>T · NP_060959.2:p.Arg1270*
- Variant type
- Nonsense / stop-gain
- Sex
- Female
- Age group
- Ages 16–20
- Protein position
- Premature stop · aa 1,270
Approved public summary
This is the story of an adolescent girl in the 16–20 age group with a de novo pathogenic ASH1L nonsense variant, developmental and cognitive differences, speech-language impairment, hypotonia, early left-sided motor weakness, strabismus, and severe epilepsy dominated by daily absence seizures around waking. Two later tonic-clonic seizures caused falls and required hospital care. After vagus nerve stimulation, her family observed fewer daily absences and a meaningful increase in how awake and active she seemed, although her absence epilepsy remained uncontrolled. In March, her family reported another episode that they described as syncopal; they reported that the VNS stopped the seizure. Her family has also observed a recent, uncharacteristic shift toward aggressive and rebellious behavior after a period in which she had been calm and well-behaved.