ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val) (rs150687712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489468 SCV000577181 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DYNC1H1 gene. The A1765V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1765V variant is observed in 18/10382 (0.17%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001089289 SCV001007775 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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