Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
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. |