ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)

gnomAD frequency: 0.00003  dbSNP: rs119103284
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000002273 SCV001369725 likely pathogenic Bietti crystalline corneoretinal dystrophy 2020-01-19 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001238176 SCV001410975 uncertain significance not provided 2022-07-11 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 2189). This missense change has been observed in individual(s) with clinical features of Bietti crystalline corneoretinal dystrophy (PMID: 15042513; Invitae). This variant is present in population databases (rs119103284, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 508 of the CYP4V2 protein (p.Arg508His).
OMIM RCV000002273 SCV000022431 pathogenic Bietti crystalline corneoretinal dystrophy 2004-05-01 no assertion criteria provided literature only
GeneReviews RCV000002273 SCV000056199 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to 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.