ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) (rs587778933)

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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) RCV000075276 SCV000106270 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000545817 SCV000625083 pathogenic Hereditary nonpolyposis colon cancer 2017-04-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 538 (p.Trp538*) of the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic. This particular variant has been reported in an individual affected with Lynch syndrome (PMID: 22883484). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000567360 SCV000669624 pathogenic Hereditary cancer-predisposing syndrome 2017-08-21 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)

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