ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.238G>A (p.Glu80Lys)

dbSNP: rs62654391
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001854500 SCV002304183 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Glu80 amino acid residue in CRX. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9390563, 11971869). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 99599). This missense change has been observed in individuals with clinical features of autosomal dominant inherited retinal dystrophy (PMID: 10874321, 33691693; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 80 of the CRX protein (p.Glu80Lys).
Retina International RCV000085994 SCV000118137 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003002 SCV001161056 likely pathogenic maculopathy 2019-06-23 no assertion criteria provided research

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.