ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.633_658del (p.Phe211fs)

dbSNP: rs2152005323
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389899 SCV001591422 pathogenic PRPH2-related disorder 2023-08-17 criteria provided, single submitter clinical testing This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Leu307Argfs*17) have been determined to be pathogenic (PMID: 8019570, 22183351, 24265693). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change creates a premature translational stop signal (p.Phe211Leufs*81) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 136 amino acid(s) of the PRPH2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076115). For these reasons, this variant has been classified as Pathogenic.

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.