Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
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. |