ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) (rs587779212)

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Total submissions: 10
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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 RCV000074659 SCV000914308 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research
Ambry Genetics RCV000131420 SCV000186400 pathogenic Hereditary cancer-predisposing syndrome 2017-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074659 SCV000592586 pathogenic Lynch syndrome 2012-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000202276 SCV000279096 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.1483C>T at the cDNA level and p.Arg495Ter (R495X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in individuals with a personal and/or family history of Lynch syndrome associated cancers (Brinkman 2006, Sjursen 2010, Bonadona 2011, Beggs 2013, Carneiro da Silva 2015, Shirts 2016, Lagerstedt-Robinson 2016), and is considered pathogenic.
Gharavi Laboratory,Columbia University RCV000202276 SCV000809460 pathogenic not provided 2018-09-16 no assertion criteria provided research
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074659 SCV000107861 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000524112 SCV000551164 pathogenic Hereditary nonpolyposis colon cancer 2018-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 495 (p.Arg495*) 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 the literature in individuals with Lynch syndrome (PMID: 20587412, 21642682, 27601186, 26437257). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202276 SCV000257212 likely pathogenic not provided no assertion criteria provided research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000202276 SCV000888241 pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000074659 SCV000266090 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing

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