ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.610G>A (p.Val204Met) (rs372679328)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197936 SCV000249686 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing p.Val204Met (V204M) GTG>ATG: c.610 G>A in exon 7 of the CBS gene (NM_000071.2). A variant of unknown significance has been identified in the CBS gene. The V204M variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V204M variant was not observed with any significant frequency in approximately 6500 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 1000 Genomes Project reports V204M was observed in 1/206 alleles from individuals of Gujarati Indian background. The V204M substitution occurs at a position that is conserved across vertebrates. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (D198V, P200L) have been reported in association with homocystinuria, supporting the functional importance of this region of the protein. Nevertheless, the V204M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.This variant was found in TAADV2-1

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