ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr)

dbSNP: rs1595609005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genomics Discovery Program, Yale University RCV001004061 SCV001156516 likely pathogenic Intellectual disability 2020-01-31 criteria provided, single submitter research The p.His1412Tyr variant in DYNC1H1 has not been reported prior to this entry, and is absent from controls (PM2). It was identified to be de novo (PS2) in a patient with mild intellectual disability, global delay, autism spectrum disorder, omphalocele and gut dysmotility. This residue is highly conserved in species. Multiple lines of in silico predictors suggest damaging effect of this amino acid substitution (PP3).

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