ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) (rs587781372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129185 SCV000183920 pathogenic Hereditary cancer-predisposing syndrome 2016-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000202022 SCV000779401 pathogenic not provided 2018-05-17 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.2932C>T at the cDNA level and p.Gln978Ter (Q978X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), 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 individuals with Lynch syndrome associated cancers (Terui 2013, Cragun 2014) and is considered pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202022 SCV000257230 likely pathogenic not provided no assertion criteria provided research

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