ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1009A>C (p.Met337Leu) (rs372822486)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199004 SCV000249701 uncertain significance not provided 2012-11-29 criteria provided, single submitter clinical testing p.Met337Leu (ATG>CTG): c.1009 A>C in exon 11 of the CBS gene (NM_000071.2). The Met337Leu variant in the CBS gene has not been reported as a disease-causing mutation nor as a benign polymorphism to our knowledge. Met337Leu results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is conserved in mammals and chicken. Mutations in nearby codons (Arg336Cys, Arg336His, Leu338Pro) have been reported in association with homocystinuria, supporting the functional importance of this region of the protein. However, in silico analysis predicts Met337Leu is benign to the protein structure/function. The NHLBI ESP Exome Variant Server reports Met337Leu was observed in 1/4,406 alleles from individuals of African American background. With the clinical and molecular information available at this time, we cannot definitively determine if Met337Leu is a disease-causing mutation or a rare benign variant. This variant was found in TAAD

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