ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.775G>A (p.Gly259Ser) (rs143124288)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648118 SCV000769929 uncertain significance Homocystinuria due to CBS deficiency 2017-11-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 259 of the CBS protein (p.Gly259Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs143124288, ExAC 0.01%). This variant has not been reported in the literature in individuals with CBS-related disease. Experimental studies have shown that this missense change abrogates CBS enzyme activity (PMID: 22267502). 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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