ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) (rs63751393)

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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) RCV000075312 SCV000106306 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000703498 SCV000832401 pathogenic Hereditary nonpolyposis colon cancer 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr561*) in the MLH1 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 an individual affected with hereditary nonpolyposis colorectal cancer (PMID: 15849733). ClinVar contains an entry for this variant (Variation ID: 89838). Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001012704 SCV001173190 pathogenic Hereditary cancer-predisposing syndrome 2018-02-21 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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