ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)

gnomAD frequency: 0.00003  dbSNP: rs773773910
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029775 SCV002108199 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-07-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WDR19-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. 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. This variant is present in population databases (rs773773910, ExAC 0.006%). This sequence change replaces glutamine with arginine at codon 339 of the WDR19 protein (p.Gln339Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002506871 SCV002815810 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004681259 SCV005177676 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.1016A>G (p.Q339R) alteration is located in exon 11 (coding exon 11) of the WDR19 gene. This alteration results from a A to G substitution at nucleotide position 1016, causing the glutamine (Q) at amino acid position 339 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.