ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1009A>G (p.Met337Val) (rs372822486)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196067 SCV000249702 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing The M337V variant in the CBS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M337V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M337V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. While this substitution occurs at a position that is conserved across species, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (R336C, R336H, L338P) have been reported in the Human Gene Mutation Database in association with homocystinuria (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret M337V as a variant of uncertain significance.
Ambry Genetics RCV000243887 SCV000319264 uncertain significance Cardiovascular phenotype 2014-05-20 criteria provided, single submitter clinical testing

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