ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)

dbSNP: rs63750872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076386 SCV000107413 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
GeneDx RCV000657647 SCV000779394 pathogenic not provided 2016-12-16 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.2091T>A at the cDNA level and p.Cys697Ter (C697X) at the protein level. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGT>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a Chinese family meeting Amsterdam Criteria for hereditary non-polyposis colorectal cancer (Cui 2004) and is considered pathogenic.
Myriad Genetics, Inc. RCV003452887 SCV004187826 pathogenic Lynch syndrome 1 2023-08-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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