Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076476 | SCV000107505 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Invitae | RCV001201361 | SCV000548269 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-04-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln816*) in the MSH2 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 individuals affected with Lynch syndrome (PMID: 12624141, 15996210). ClinVar contains an entry for this variant (Variation ID: 90974). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001015571 | SCV001176418 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-10-18 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense) |