Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076189 | SCV000107206 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Invitae | RCV000076189 | SCV000548183 | pathogenic | Lynch syndrome | 2016-05-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 510 (p.Gln510*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported as a germline variant in the literature, truncating variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |