ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068072 SCV001233161 uncertain significance Classic homocystinuria 2019-04-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 526 of the CBS protein (p.Gln526Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a positive newborn screening result for CBS-related disease (PMID: 14635102) This variant has been reported to affect CBS protein function (PMID: 14635102, 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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