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 2019-07-02 criteria provided, single submitter clinical testing The p.Q978* pathogenic mutation (also known as c.2932C>T), located in coding exon 4 of the MSH6 gene, results from a C to T substitution at nucleotide position 2932. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This pathogenic mutation has been reported in individuals with a personal and family history of Lynch syndrome related cancers (Terui H et al. Oncol. Rep. 2013 Dec; 30(6):2909-16; Cragun D et al. Clin. Genet. 2014 Dec; 86(6):510-20). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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 Laboratories, Mayo Clinic RCV000202022 SCV000257230 likely pathogenic not provided no assertion criteria provided research

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