ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) (rs119103282)

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
Invitae RCV001238785 SCV001411614 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 44 of the CYP4V2 protein (p.Trp44Arg). The tryptophan residue is moderately conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs119103282, ExAC 0.06%). This variant has been observed in several individuals affected with Bietti crystalline corneoretinal dystrophy (PMID: 15042513, 28051075). ClinVar contains an entry for this variant (Variation ID: 2187). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
OMIM RCV000002271 SCV000022429 pathogenic Bietti crystalline corneoretinal dystrophy 2004-05-01 no assertion criteria provided literature only
GeneReviews RCV000002271 SCV000056196 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.