Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001860523 | SCV002217556 | pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg984*) 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). This variant is present in population databases (rs774215025, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 21412943). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 812238). For these reasons, this variant has been classified as Pathogenic. |
Sharon lab, |
RCV001002901 | SCV001160936 | pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research |