ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2801C>T (p.Thr934Met) (rs587779969)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212622 SCV000149433 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.2801C>T at the cDNA level, p.Thr934Met (T934M) at the protein level, and results in the change of a Threonine to a Methionine (ACG>ATG). This variant has been observed in individuals with ovarian cancer, gastrointestinal stromal tumor, and breast cancer (South 2009, Ballinger 2016, Caminsky 2016). MSH2 Thr934Met was observed at an allele frequency of 0.014% (2/14,858) in individuals of African ancestry in large population cohorts (Lek 2016). This variant is located within the helix-turn-helix domain and in the region that interacts with MSH6 and MSH3 (Guerrette 1998, Lutzen 2008). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether MSH2 Thr934Met is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000115524 SCV000187163 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000205689 SCV000262352 likely benign Hereditary nonpolyposis colon cancer 2017-12-18 criteria provided, single submitter clinical testing
Color RCV000115524 SCV000690098 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing

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