ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.152G>A (p.Arg51Lys) (rs370983323)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486724 SCV000569322 uncertain significance not provided 2016-02-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CBS gene. The R51K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R51K variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, the R51K 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 where amino acids with similar properties to Arginine are tolerated across species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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