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
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000074867 SCV000914311 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research
Ambry Genetics RCV000491292 SCV000580168 pathogenic Hereditary cancer-predisposing syndrome 2017-11-14 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 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.
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
Invitae RCV000791426 SCV000551275 pathogenic Hereditary nonpolyposis colon cancer 2018-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1163 (p.Glu1163*) of the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic. This particular variant has been reported in individuals affected with colon cancer, ovarian cancer or endometrial cancer (PMID: 26437257, 26681312, 25093288). ClinVar contains an entry for this variant (Variation ID: 89399). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000115417 SCV000691939 pathogenic not provided no assertion criteria provided clinical testing

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