ClinVar Miner

Submissions for variant NM_001354630.1(MLH1):c.1732-951AG[2] (rs63750035)

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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) RCV000075364 SCV000106358 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000684798 SCV000543636 pathogenic Hereditary nonpolyposis colon cancer 2018-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser595Trpfs*14) 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 reported in several individuals affected with Lynch syndrome (PMID: 8571956, 12810663, 15849733, 20459533). ClinVar contains an entry for this variant (Variation ID: 89888). 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 RCV001013138 SCV001173682 pathogenic Hereditary cancer-predisposing syndrome 2019-03-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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