ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys)

gnomAD frequency: 0.00001  dbSNP: rs1324234734
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 RCV002015495 SCV002285049 uncertain significance Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 3 of the WNT10A protein (p.Ser3Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with WNT10A-related conditions. 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.