ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.7C>G (p.Arg3Gly)

dbSNP: rs878854130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338748 SCV001532442 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-01-13 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1035825). 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 arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 3 of the VHL protein (p.Arg3Gly). 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.
Ambry Genetics RCV002418995 SCV002678659 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-25 criteria provided, single submitter clinical testing The p.R3G variant (also known as c.7C>G), located in coding exon 1 of the VHL gene, results from a C to G substitution at nucleotide position 7. The arginine at codon 3 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005154 SCV004826810 uncertain significance Von Hippel-Lindau syndrome 2023-04-27 criteria provided, single submitter clinical testing

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