ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1530G>T (p.Gln510His) (rs587782355)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131303 SCV000186275 uncertain significance Hereditary cancer-predisposing syndrome 2013-08-20 criteria provided, single submitter clinical testing
Color RCV000131303 SCV000911440 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV000823121 SCV000963965 uncertain significance Hereditary nonpolyposis colon cancer 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 510 of the MSH2 protein (p.Gln510His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 142279). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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