ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)

dbSNP: rs866543181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074763 SCV001240358 pathogenic Retinal dystrophy 2019-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387747 SCV001588457 pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln268*) 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 PCARE-related conditions (PMID: 28763557). ClinVar contains an entry for this variant (Variation ID: 866617). For these reasons, this variant has been classified as Pathogenic.
Faculty of Health Sciences, Beirut Arab University RCV001257876 SCV001434627 pathogenic Autosomal recessive retinitis pigmentosa 2017-08-01 no assertion criteria provided literature only

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