ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) (rs779777933)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648117 SCV000769928 uncertain significance Classic homocystinuria 2017-08-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 52 of the CBS protein (p.Cys52Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs779777933, ExAC 0.006%). This variant has not been reported in the literature in individuals with CBS-related disease. This variant has been observed in homozygosis in an individual with elevated homocysteine and methionine levels in plasma, findings that are highly specific for homocystinuria (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.

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