ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11629A>G (p.Arg3877Gly)

gnomAD frequency: 0.00001  dbSNP: rs1194851950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523126 SCV000620197 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The R3884G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3884G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3884G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.

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