ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.74A>C (p.Gln25Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV005234140 SCV005875325 likely pathogenic Intellectual disability, autosomal dominant 50 2025-02-21 criteria provided, single submitter clinical testing Detected in a male with neurodevelopmental delay, delayed speech and language development, mild to moderate intellectual disability, short attention span, global developmental delay, hyperkinetic movements, delayed fine motor development, abnormal social/affect behavior, sleep disturbance, abnormality of the upper lip. This missense variant was recently described as likely pathogenic de novo variant in a child with autism spectrum disorder (PMID:39825710). The functional analysis suggested impaired neurite growth (impaired development of neurons and synapses) (PMID:39825710). Rare variants in the NAA15 gene are well-known cause of autosomal dominant "intellectual developmental disorder with behavioral abnormalities, type 50" (MIM:617787). The variant NM_057175.5(NAA15):c.74A>C, p.(Gln25Pro) is classified as likely pathogenic (ACMG PM2, PP2, PP3, PP5, PS3).

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