Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076328 | SCV000107352 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Invitae | RCV001854320 | SCV002239055 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-06-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp660Glufs*15) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Lynch syndrome (PMID: 11748856). This variant is also known as c.1979_1980delAT. ClinVar contains an entry for this variant (Variation ID: 90826). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003452870 | SCV004188037 | pathogenic | Lynch syndrome 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |