ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter)

dbSNP: rs1667483876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268684 SCV001447801 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268684 SCV003350252 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 987347). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys902*) 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). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989667 SCV004806924 pathogenic Retinitis pigmentosa 54 2024-03-26 criteria provided, single submitter clinical testing

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