ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.694C>T (p.Gln232Ter) (rs587779318)

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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) RCV000075025 SCV000108246 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000412800 SCV000490619 pathogenic not provided 2016-06-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.694C>T at the cDNA level and p.Gln232Ter (Q232X) 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 was reported in a recent study (Pritchard 2012) and is considered pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000075025 SCV000592575 pathogenic Lynch syndrome 2013-02-13 criteria provided, single submitter clinical testing

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