ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.613G>C (p.Glu205Gln) (rs63749984)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526049 SCV000625441 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 205 of the MSH2 protein (p.Glu205Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with pancreatic cancer. Another variant in MSH2 (c.1099G>A p.Val367Ile) was reported in the same individual (PMID: 19728162). Experimental studies have shown that this missense change alone or in conjunction with p.Val367Ile does not affect the MMR activity of the MSH2 protein (PMID: 19728162,22581703). In summary, this variant is a rare missense change that has been shown to not have any impact on MMR activity of MSH2 protein. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000579804 SCV000685110 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579804 SCV001187029 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing Insufficient evidence;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene

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