ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1271A>G (p.His424Arg) (rs200429136)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034550 SCV000043340 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000579677 SCV000684918 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000662477 SCV000784974 uncertain significance Lynch syndrome I 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000234353 SCV000284102 uncertain significance Hereditary nonpolyposis colon cancer 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 424 of the MSH2 protein (p.His424Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. 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. This variant has been reported in an unaffected individual (PMID: 22703879). ClinVar contains an entry for this variant (Variation ID: 41642). 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 C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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