ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.395G>A (p.Arg132His)

gnomAD frequency: 0.00001  dbSNP: rs779011920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230758 SCV000543505 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-12-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 132 of the CBS protein (p.Arg132His). This variant is present in population databases (rs779011920, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CBS-related conditions. ClinVar contains an entry for this variant (Variation ID: 405373). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV000462847 SCV001781423 uncertain significance Classic homocystinuria 2021-07-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261087 SCV002541702 uncertain significance not provided 2021-05-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000462847 SCV002083818 uncertain significance Classic homocystinuria 2020-08-25 no assertion criteria provided clinical testing

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