ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.545G>A (p.Arg182Gln)

gnomAD frequency: 0.00002  dbSNP: rs138314784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002538165 SCV000953905 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 182 of the CBS protein (p.Arg182Gln). This variant is present in population databases (rs138314784, gnomAD 0.006%). 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: 657002). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV000813541 SCV002083805 uncertain significance Classic homocystinuria 2020-02-16 no assertion criteria provided clinical testing

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