Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538685 | SCV000624584 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2017-03-20 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 11 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic. A similar deletion of exon 11 has been reported in an individual with suspected Lynch syndrome (PMID: 25512458). For these reasons, this variant has been classified as Pathogenic. |