ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter)

gnomAD frequency: 0.00001  dbSNP: rs777103184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003660832 SCV004381320 pathogenic not provided 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp397*) 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 (rs777103184, gnomAD 0.003%). 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: 599266). For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735858 SCV000863541 pathogenic Retinitis pigmentosa 54 2018-12-06 no assertion criteria provided clinical testing The observed variant NM_001029883:c.1191G>A (p. Trp397Ter) has not been reported in 1000 genomes and has a minor allele frequency of 0.001% in the ExAC database. The in-silico prediction of the variant is damaging by MutationTaster2.

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