ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1024G>A (p.Val342Ile) (rs63749879)

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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 RCV000571922 SCV000662295 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-19 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000571922 SCV000908290 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-06 criteria provided, single submitter clinical testing
Invitae RCV000807942 SCV000948022 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-07-05 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 342 of the MSH2 protein (p.Val342Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with colorectal cancer and Lynch syndrome (PMID: 24278394, 17192056, 15862756, 14504054) as well as in an individual with breast cancer (Invitae). However, in several individuals pathogenic allele[s] were also identified in MSH2, which suggests that this c.1024G>A variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 90508). This variant has been reported to affect MSH2 protein function (PMID: 26951660). 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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