ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.651C>T (p.Ser217=)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002600265 SCV002945894 uncertain significance not provided 2022-07-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CYP4V2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects codon 217 of the CYP4V2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CYP4V2 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Dept Of Ophthalmology, Nagoya University RCV003889124 SCV004706580 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter 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.