ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.227A>C (p.Gln76Pro)

gnomAD frequency: 0.00001  dbSNP: rs1281311713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322124 SCV001512981 benign Hereditary nonpolyposis colorectal neoplasms 2022-07-12 criteria provided, single submitter clinical testing
GeneDx RCV001788459 SCV002031102 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18822302, 21120944, 27535533)

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