ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.130G>T (p.Gly44Cys)

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 RCV003786027 SCV004567829 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-03-19 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt VHL protein function. This variant has not been reported in the literature in individuals affected with VHL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 44 of the VHL protein (p.Gly44Cys).
Baylor Genetics RCV004573301 SCV005055795 uncertain significance Chuvash polycythemia 2024-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004686797 SCV005179656 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-29 criteria provided, single submitter clinical testing The p.G44C variant (also known as c.130G>T), located in coding exon 1 of the VHL gene, results from a G to T substitution at nucleotide position 130. The glycine at codon 44 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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.