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.4985-2539C>T
- Report protein consequence
- p.(?)
- Zygosity
- Heterozygous
- Molecular consequence
- Deep-intronic / protein consequence unresolved
- Laboratory classification
- Variant of uncertain significance
- Classification source
- CentoGenome report, May 2025; family-reviewed summary
- Inheritance
- Not established
- Relevant additional finding
- RAC3 VUS; PALB2 pathogenic secondary predisposition finding; PYGM heterozygous carrier finding. Each is described separately.
- Protein mapping
- Protein consequence unresolved; not placed on the protein map
- Variant type
- Deep-intronic / noncoding
- Sex
- Male
- Age group
- Ages 6–10
- Protein position
- No single protein position
Approved public summary
A boy in the 6–10 age group whose history includes premature birth and neonatal illness, severe bilateral retinopathy of prematurity with retinal detachments and lasting visual disability, global developmental differences, and a family-reported loss of previously used spoken words. His family also describes constipation, intermittent sleep difficulty, and substantial dental treatment. He walks, and his family continues seeking a clearer understanding of his communication changes and medical needs. The 2025 genome analysis did not identify a clinically relevant variant explaining the submitted phenotype. The ASH1L deep-intronic finding and a separate RAC3 finding remain variants of uncertain significance. This is a history associated with an uncertain ASH1L result, not a confirmed ASH1L-related molecular diagnosis.