ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) (rs587779232)

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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) RCV000074719 SCV000107927 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000130308 SCV000185158 pathogenic Hereditary cancer-predisposing syndrome 2018-06-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000690199 SCV000817878 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr709*) 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 reported in individuals in the Universal Mutation Database (PMID: 10612827) and in an individual undergoing testing for Lynch syndrome (PMID: 28514183). ClinVar contains an entry for this variant (Variation ID: 89255). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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