Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797004 | SCV000936541 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-11-15 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related conditions. This sequence change creates a premature translational stop signal (p.Glu675*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. |