Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073799 | SCV001239361 | likely pathogenic | Retinal dystrophy | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001382721 | SCV001581623 | pathogenic | not provided | 2023-02-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg320Alafs*3) 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 (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. ClinVar contains an entry for this variant (Variation ID: 866068). For these reasons, this variant has been classified as Pathogenic. |
Broad Center for Mendelian Genomics, |
RCV001724232 | SCV001950305 | pathogenic | Retinitis pigmentosa | 2021-04-01 | criteria provided, single submitter | curation | The p.Arg320AlafsTer3 variant in PCARE was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3-P. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. |
3billion | RCV001809977 | SCV002058643 | pathogenic | Retinitis pigmentosa 54 | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000866068). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000008, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |