ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) (rs797045177)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236582 SCV000293824 likely pathogenic not provided 2016-02-09 criteria provided, single submitter clinical testing The R309H variant has been previously reported as a de novo potentially causal germline variant in an individual with brain malformations on MRI, including posterior-predominant pachygyria, corpus callosum abnormalities, small anterior vermis and short pons (Jamuar et al., 2014). R309H was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R309H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Based on the currently available information, GeneDx interprets R309H as a likely pathogenic variant; however, the possibility that it is benign cannot be excluded.
University of Washington Center for Mendelian Genomics, University of Washington RCV000191045 SCV000246119 pathogenic Mental retardation, autosomal dominant 13 2015-05-19 no assertion criteria provided research

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