ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)

dbSNP: rs63749846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587946 SCV000696251 likely pathogenic Lynch syndrome 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The c.2466T>A (p.Cys822*) variant in MSH2 gene is a nonsense change predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population dataset of ExAC. The variant of interest has not been reported in affected individuals in the literature or cited by reputable database/diagnostic center. Another variant, c.2466_2467delTG with the same consequence (p.Cys822*) has been reported as a germline change in CRC pt, who fulfilled the Bethesda II criteria; IHC showed selective loss of the MSH2 and MSI-H status in tumor sample. Taken together, the variant was classified as Likely Pathogenic.
Myriad Genetics, Inc. RCV003451330 SCV004188100 pathogenic Lynch syndrome 1 2023-08-08 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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