ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.151GAG[2] (p.Glu53del)

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
Ambry Genetics RCV003203225 SCV003888398 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The c.157_159delGAG variant (also known as p.E53del) is located in coding exon 1 of the VHL gene. This variant results from an in-frame GAG deletion at nucleotide positions 157 to 159. This results in the in-frame deletion of a glutamic acid at codon 53. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572880 SCV005055793 uncertain significance Chuvash polycythemia 2024-02-23 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.