ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)

gnomAD frequency: 0.00001  dbSNP: rs774215025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860523 SCV002217556 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg984*) 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 (rs774215025, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 21412943). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 812238). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002901 SCV001160936 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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