Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033504 | SCV001196811 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-09-26 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-9 of the PMS2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). A similar copy number variant has been observed in individual(s) with clinical features of PMS2-related conditions (PMID: 26320870). For these reasons, this variant has been classified as Pathogenic. |