Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075233 | SCV000106226 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV001233848 | SCV001406462 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-07-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu507Phefs*8) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Lynch syndrome (PMID: 11385712, 14970868). ClinVar contains an entry for this variant (Variation ID: 89759). Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. |