ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)

gnomAD frequency: 0.00001  dbSNP: rs758239674
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
Mendelics RCV000989169 SCV001139389 likely pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869358 SCV002181577 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-01 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 803001). This missense change has been observed in individual(s) with leber congenital amaurosis (PMID: 32865313). This variant is present in population databases (rs758239674, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 267 of the RPGRIP1 protein (p.Arg267Gln). This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon.

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.