ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2572G>A (p.Gly858Arg) (rs754533481)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462770 SCV000548294 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 858 of the MSH2 protein (p.Gly858Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs754533481, ExAC 0.02%). This variant has been observed to be homozygous or hemizygous in an individual with no clinical features of constitutional mismatch repair deficiency syndrome (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000491706 SCV000580624 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000491706 SCV000685058 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-05 criteria provided, single submitter clinical testing

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