ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.359A>G (p.Asp120Gly)

dbSNP: rs1982750491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003154004 SCV001538894 likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 120 of the CBS protein (p.Asp120Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of CBS deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 1041073). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CBS protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001344817 SCV002083822 uncertain significance Classic homocystinuria 2021-07-13 no assertion criteria provided clinical testing

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