ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs)

gnomAD frequency: 0.00001  dbSNP: rs1196801124
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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 RCV001074986 SCV001240595 pathogenic Retinal dystrophy 2017-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554734 SCV003524200 pathogenic not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly570Glufs*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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 27353947). ClinVar contains an entry for this variant (Variation ID: 866727). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074986 SCV005072346 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753204 SCV005361430 pathogenic PCARE-related disorder 2024-09-03 no assertion criteria provided clinical testing The PCARE c.1709_1728del20 variant is predicted to result in a frameshift and premature protein termination (p.Gly570Glufs*3). This variant has been reported homozygous and compound heterozygous with other PCARE loss-of-function variants in multiple individuals with retinitis pigmentosa (Table 1, Tiwari et al. 2016. PubMed ID: 27353947; Table 1, Gerth-Kahlert et al. 2017. PubMed ID: 28763557). This variant is reported in one allele out of ~249,000 alleles in gnomAD. Frameshift variants in PCARE are expected to be pathogenic. This variant is interpreted as pathogenic.

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