Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075728 | SCV000106725 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV001271103 | SCV000299088 | pathogenic | Lynch syndrome | 2015-11-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 6 of the MLH1 gene. This is predicted to create a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. Deletions of exon 6 have been reported in individuals with hereditary non-polyposis colorectal cancer (HNPCC) (PMID: 14728922, 18330910, 18792805, 12402334). For these reasons, this variant has been classified as Pathogenic. |