ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1689dup (p.Leu564fs)

dbSNP: rs63750464
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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) RCV000075314 SCV000106308 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002399445 SCV002710800 pathogenic Hereditary cancer-predisposing syndrome 2021-05-13 criteria provided, single submitter clinical testing The c.1689dupA pathogenic mutation, located in coding exon 15 of the MLH1 gene, results from a duplication of A at nucleotide position 1689, causing a translational frameshift with a predicted alternate stop codon (p.L564Tfs*4). This mutation, designated as c.1689_1690insA (L564Xfs), has been reported in several families with Lynch syndrome (Choi YH et al. Hered Cancer Clin Pract, 2009 Aug;7:14; Casey G et al. JAMA, 2005 Feb;293:799-809). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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