ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.458dup (p.Arg154fs)

dbSNP: rs781249059
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266163 SCV001444335 pathogenic Inborn genetic diseases 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541624 SCV002981012 pathogenic not provided 2022-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg154Thrfs*75) in the RP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RP1 are known to be pathogenic (PMID: 11960024, 19933189). This variant is present in population databases (rs781249059, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 985322). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003908484 SCV004724571 likely pathogenic RP1-related disorder 2023-12-19 criteria provided, single submitter clinical testing The RP1 c.458dupC variant is predicted to result in a frameshift and premature protein termination (p.Arg154Thrfs*75). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in RP1 are expected to be pathogenic. This variant is interpreted as likely 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.