ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) (rs587779267)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074867 SCV000108079 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
GeneDx RCV000115417 SCV000149326 pathogenic not provided 2014-03-05 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.3487G>T at the cDNA level and p.Glu1163Ter (E1163X) at the protein level. The substitution creates a nonsense variant, changing a Glutamic Acid to a premature stop codon (GAA>TAA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not, to our knowledge, been published in the literature.
Invitae RCV000791426 SCV000551275 pathogenic Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1163*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with colon cancer, ovarian cancer or endometrial cancer (PMID: 26437257, 26681312, 25093288). ClinVar contains an entry for this variant (Variation ID: 89399). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491292 SCV000580168 pathogenic Hereditary cancer-predisposing syndrome 2019-03-13 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000074867 SCV000914311 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000115417 SCV000691939 pathogenic not provided no assertion criteria provided clinical testing

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