ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1990-2A>G (rs267607883)

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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) RCV000075469 SCV000106467 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical acceptor splice site
Invitae RCV000690743 SCV000818444 pathogenic Hereditary nonpolyposis colon cancer 2018-02-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 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 segregates with Lynch syndrome in at least one family affected with Lynch syndrome or Lynch-syndrome related cancers (PMID: 15365996, Invitae). ClinVar contains an entry for this variant (Variation ID: 89987). 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202242 SCV000257080 likely pathogenic not provided no assertion criteria provided research

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