ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.160T>G (p.Phe54Val)

dbSNP: rs730880419
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 RCV002785678 SCV003020655 uncertain significance Long QT syndrome 2022-03-26 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of CAV3-related conditions (PMID: 27312022). This variant is present in population databases (rs730880419, gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 54 of the CAV3 protein (p.Phe54Val). 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. 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.