ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val) (rs377404952)

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
Invitae RCV000203767 SCV000261996 uncertain significance Arrhythmogenic right ventricular dysplasia, familial, 13 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 435 of the CTNNA3 protein (p.Met435Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs377404952, ExAC 0.05%) but has not been reported in the literature in individuals with a CTNNA3-related disease. ClinVar contains an entry for this variant (Variation ID: 220977). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000203767 SCV000896067 uncertain significance Arrhythmogenic right ventricular dysplasia, familial, 13 2018-10-31 criteria provided, single submitter clinical testing

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.