ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.588G>C (p.Arg196Ser)

gnomAD frequency: 0.00003  dbSNP: rs555751528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002534387 SCV000829581 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 196 of the CBS protein (p.Arg196Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs555751528, ExAC 0.06%). This variant has not been reported in the literature in individuals affected with CBS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002352191 SCV002649506 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-12 criteria provided, single submitter clinical testing The p.R196S variant (also known as c.588G>C), located in coding exon 5 of the CBS gene, results from a G to C substitution at nucleotide position 588. The arginine at codon 196 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000700809 SCV002083802 uncertain significance Classic homocystinuria 2020-07-09 no assertion criteria provided clinical testing

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