ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1945C>A (p.Gln649Lys)

dbSNP: rs747575530
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 RCV001922690 SCV002167503 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 649 of the RPGRIP1 protein (p.Gln649Lys). This variant is present in population databases (rs747575530, gnomAD 0.0009%). This missense change has been observed in individual(s) with clincal features of inherited retinal dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 1398945). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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.