Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003656701 | SCV001406395 | pathogenic | not provided | 2022-05-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser121Profs*28) in the POLE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLE are known to be pathogenic (PMID: 23230001, 25948378, 30503519). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 960284). For these reasons, this variant has been classified as Pathogenic. |