Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031683 | SCV001194989 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-10-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the PMS2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant disrupts a region of the PMS2 protein in which other variant(s) (p.Ser815Leu) have been determined to be pathogenic (PMID: 20186688, 23837913, 25512458, 26110232, 27435373, 28503822; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |