Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric Genomics Discovery Program, |
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). |