Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794824 | SCV000934256 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-10-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the PMS2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Lynch syndrome-associated tumors (PMID: 23709753). It has also been observed to segregate with disease in related individuals. The region of the PMS2 gene that includes exon(s) 6 has been determined to be clinically significant (PMID: 20205264, 23709753, 24440087). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |