ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) (rs367658438)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000627266 SCV000705344 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000627266 SCV000748258 pathogenic not provided 2018-10-26 criteria provided, single submitter clinical testing The W1001X variant in the C2orf71 gene has been reported previously in association with autosomal recessive retinitis pigmentosa in an affected individual who was compound heterozygous for the W1001X variant and another loss-of-function variant (Audo et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W1001X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W1001X as a pathogenic variant.
Blueprint Genetics RCV001074819 SCV001240418 pathogenic Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197047 SCV001367682 pathogenic See cases 2020-03-25 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM3,PS4_MOD. This variant was detected in homozygous state.
Invitae RCV000627266 SCV001377037 pathogenic not provided 2020-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1001*) in the PCARE gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs367658438, ExAC 0.006%). This variant has been reported in individuals affected with retinitis pigmentosa (PMID: 21412943, 28041643). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as C2Orf71 p.Trp1001* in the literature. ClinVar contains an entry for this variant (Variation ID: 438048). Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Molecular Genetics, University of Zurich RCV001352960 SCV001548031 likely pathogenic Retinitis pigmentosa 54 2021-01-30 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000627266 SCV001762217 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504713 SCV000598875 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.