Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076462 | SCV000107491 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Invitae | RCV003593901 | SCV004293903 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-03-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is also known as 2360insTT. This premature translational stop signal has been observed in individual(s) with hereditary non-polyposis colorectal cancer (PMID: 10713887). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr788Leufs*25) 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). |