ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) (rs137853026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000516063 SCV000611970 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726973 SCV000704592 uncertain significance not provided 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000726973 SCV000616702 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing The M3762V variant has been published in the homozygous state in two children affected with skeletal dysplasia born to consanguineous parents; however, these children were also homozygous for another variant in the DYNC2H1 gene (Dagoneau et al., 2009). The M3762V variant is observed in 35/9648 (0.36%) alleles from individuals of African background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M3762V 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.
OMIM RCV000006874 SCV000027070 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2009-05-01 no assertion criteria provided literature only

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