ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) (rs943680446)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000515981 SCV000611955 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
GeneDx RCV000486867 SCV000573444 pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing A novel R3407X pathogenic variant was identified in the DYNC2H1 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3407X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R3407X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).Other known loss of function variants in this region have been reported in the Human Gene Mutation Database in association with asphyxiating thoracic dystrophy (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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