ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1761T>C (p.Ser587=)

gnomAD frequency: 0.00014  dbSNP: rs559041866
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071971 SCV001237310 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-11-20 criteria provided, single submitter clinical testing This sequence change affects codon 587 of the RPGRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPGRIP1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs559041866, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 864720). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003928688 SCV004744938 likely benign RPGRIP1-related disorder 2019-05-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.