ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) (rs552436294)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000515977 SCV000611946 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
Dan Cohn Lab,University Of California Los Angeles RCV000515935 SCV000611980 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
GeneDx RCV000483501 SCV000566908 likely pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing The A1995T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It has been observed in trans with another pathogenic variant in two related affected individuals tested at GeneDx. The A1995T 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). The A1995T 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 not conserved. In silico analysis predicts this variant is damaging to protein structure/function. A missense variant in a nearby residue (M1991K) has been reported in the Human Gene Mutation Database in association with asphyxiating thoracic dystrophy (Stenson et al., 2014).

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