ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.28G>T (p.Ala10Ser)

gnomAD frequency: 0.00002  dbSNP: rs774912957
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
Eurofins Ntd Llc (ga) RCV000173203 SCV000224297 uncertain significance not provided 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000173203 SCV002261009 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 10 of the WDR62 protein (p.Ala10Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs774912957, ExAC 0.1%). This variant has been observed in individual(s) with WDR62-related conditions (PMID: 27852057). ClinVar contains an entry for this variant (Variation ID: 193156). 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.