Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076461 | SCV000107490 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Myriad Genetics, |
RCV003452907 | SCV004186896 | pathogenic | Lynch syndrome 1 | 2023-08-08 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Invitae | RCV003593900 | SCV004293902 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-07-31 | 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: 90959). This variant is also known as del782fs. This premature translational stop signal has been observed in individual(s) with hereditary nonpolyposis colorectal cancer (PMID: 7726159). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His783Ilefs*29) 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). |