ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.208-1G>A (rs267607717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075514 SCV000106516 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Invitae RCV000629825 SCV000750781 pathogenic Hereditary nonpolyposis colon cancer 2017-12-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the MLH1 gene. It is expected to disrupt RNA splicing and likely results 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 families affected with Lynch syndrome (PMID: 18931482, 18389388, 27601186, 25892863). ClinVar contains an entry for this variant (Variation ID: 90029). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.

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