ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.712T>G (p.Tyr238Asp) (rs1060501987)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476574 SCV000548127 uncertain significance Lynch syndrome 2016-06-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 238 of the MSH2 protein (p.Tyr238Asp). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH2-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: "Benign"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV001026074 SCV001188385 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-22 criteria provided, single submitter clinical testing Insufficient evidence

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