Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074354 | SCV001239929 | likely pathogenic | Retinal dystrophy | 2019-07-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862555 | SCV002217566 | pathogenic | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 866401). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 28763557). This variant is present in population databases (rs762973163, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser134Argfs*47) in the PCARE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393). |