ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3961A>T (p.Arg1321Ter)

dbSNP: rs41295278
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Total submissions: 1
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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 RCV001806823 SCV002051355 likely pathogenic Hereditary nonpolyposis colon cancer 2021-12-24 criteria provided, single submitter clinical testing Variant summary: MSH6 c.3961A>T (p.Arg1321X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 248336 control chromosomes. c.3961A>T has been reported in the literature in at-least one individual affected with Hereditary Nonpolyposis Colorectal Cancer/Lynch syndrome (example, Terui_2013). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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