ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13261G>A (p.Ala4421Thr) (rs376492799)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501469 SCV000594455 uncertain significance not specified 2015-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000766879 SCV000618931 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing The A4421T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A4421T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This 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 in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with DYNC1H1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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