ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1114G>T (p.Val372Phe) (rs775354680)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200072 SCV000249710 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing p.Val372Phe (GTC>TTC): c.1114 G>T in exon 12 of the CBS gene (NM_000071.2). The Val372Phe variant in the CBS gene has not been reported as a disease-causing mutation nor as a benign polymorphism to our knowledge. Val372Phe results in a semi-conservative amino acid substitution of larger, non-polar Phenylalanine with a non-polar Valine at a position that is conserved across species. In silico analysis predicts Val372Phe is probably damaging to the protein structure/function. Mutations in nearby residues (Cys370Tyr, Val371Met, Asp376Asn) have been reported in association with homocystinuria, supporting the functional importance of this region of the protein. With the clinical and molecular information available at this time, we cannot definitively determine if Val372Phe is a disease-causing mutation or a rare benign variant. This variant was found in TAAD

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