ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1598G>A (p.Cys533Tyr) (rs564240478)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529997 SCV000625085 uncertain significance Hereditary nonpolyposis colon cancer 2017-02-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 533 of the MLH1 protein (p.Cys533Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MLH1-related disease. 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, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000582782 SCV000689824 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-04 criteria provided, single submitter clinical testing

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