ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) (rs1043384862)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413597 SCV000491564 likely pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing A novel A1542V variant that is likely pathogenic has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1542V variant was not observed in approximately 5700 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A1542V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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. A missense variant in a nearby residue (Gln1537Arg) has been reported in the Human Gene Mutation Database in association with SRTD3 (Stenson et al., 2014), supporting the functional importance of this region of the protein.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000502405 SCV000598132 likely pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2015-02-24 criteria provided, single submitter clinical testing This heterozygous variant in the DYNC2H1 gene (autosomal recessive transmission), inherited from the father, was present in a foetus who also harbours a second variant in the same gene inherited by the mother (compound heterozygosity).
Dan Cohn Lab,University Of California Los Angeles RCV000516019 SCV000611958 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research

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