ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.179G>C (p.Arg60Pro)

dbSNP: rs1696126647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235452 SCV001408138 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2019-11-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with VHL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 60 of the VHL protein (p.Arg60Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline.
All of Us Research Program, National Institutes of Health RCV004004862 SCV004826479 uncertain significance Von Hippel-Lindau syndrome 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces arginine with proline at codon 60 of the VHL protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with VHL-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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