Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390842 | SCV001592705 | pathogenic | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly131*) in the PCARE gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PCARE-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393). |