Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075799 | SCV000106811 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV001854307 | SCV002233916 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-07-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 90309). This premature translational stop signal has been observed in individual(s) with Lynch syndrome and/or breast cancer (PMID: 11112663, 22034109). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser225Valfs*4) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). |
Genetics and Molecular Pathology, |
RCV000075799 | SCV002556889 | pathogenic | Lynch syndrome | 2020-04-20 | criteria provided, single submitter | clinical testing |