ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu)

gnomAD frequency: 0.00043  dbSNP: rs141039852
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811471 SCV000884903 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing The WDR19 c.3707G>A; p.Gly1236Glu variant (rs141039852), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 618492). This variant is found in the African population with an overall allele frequency of 0.16% (38/24188 alleles, including one homozygote) in the Genome Aggregation Database. The glycine at codon 1236 is weakly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Gly1236Glu variant is uncertain at this time.
Invitae RCV001079233 SCV001025823 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-12-12 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.