ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2966dup (p.Val990fs)

dbSNP: rs770881706
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Total submissions: 2
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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 RCV001543560 SCV001762214 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001543560 SCV005788813 pathogenic not provided 2024-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val990Cysfs*117) 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 variant has not been reported in the literature in individuals affected with PCARE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1184960). For these reasons, this variant has been classified as Pathogenic.

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