ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.817C>T (p.Pro273Ser)

dbSNP: rs2146374921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952637 SCV002203543 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CBS-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 273 of the CBS protein (p.Pro273Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.

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