ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.608A>G (p.Gln203Arg)

gnomAD frequency: 0.00001  dbSNP: rs1270568049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564767 SCV000675819 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-12 criteria provided, single submitter clinical testing The p.Q203R variant (also known as c.608A>G), located in coding exon 3 of the VHL gene, results from an A to G substitution at nucleotide position 608. The glutamine at codon 203 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001347561 SCV001541828 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 203 of the VHL protein (p.Gln203Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VHL-related conditions. ClinVar contains an entry for this variant (Variation ID: 486716). 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 expected to disrupt VHL protein function. 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.
Baylor Genetics RCV003459406 SCV004208772 uncertain significance Chuvash polycythemia 2023-06-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001180 SCV004822003 uncertain significance Von Hippel-Lindau syndrome 2023-11-30 criteria provided, single submitter clinical testing

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