ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)

gnomAD frequency: 0.00001  dbSNP: rs748396645
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041302 SCV001204907 pathogenic not provided 2024-05-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1202*) 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 (rs748396645, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with PCARE-related retinal dystrophy (PMID: 28763557). ClinVar contains an entry for this variant (Variation ID: 839525). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074821 SCV001240420 pathogenic Retinal dystrophy 2019-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001041302 SCV001765342 pathogenic not provided 2019-11-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Identified in an individual with retinitis pigmentosa who had an additional C2orf71 variant in published literature; segregation data was not included (Gerth-Kahlert et al., 2017); This variant is associated with the following publications: (PMID: 28763557)
Genomics England Pilot Project, Genomics England RCV001542737 SCV001760083 likely pathogenic Retinitis pigmentosa 54 no assertion criteria provided clinical testing

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