ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.958del (p.Arg320fs)

gnomAD frequency: 0.00001  dbSNP: rs1558490060
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Total submissions: 4
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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
Invitae RCV001382721 SCV001581623 pathogenic not provided 2023-02-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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).
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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.

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