ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1545dup (p.Ser516fs)

dbSNP: rs1553354826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625235 SCV000744248 pathogenic Retinitis pigmentosa 54 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001701413 SCV002171207 pathogenic not provided 2021-03-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PCARE-related conditions. ClinVar contains an entry for this variant (Variation ID: 522284). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser516Ilefs*5) 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).
Clinical Genetics, Academic Medical Center RCV001701413 SCV001917786 pathogenic not provided no assertion criteria provided clinical testing

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