ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.145G>C (p.Gly49Arg)

dbSNP: rs1696124265
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346919 SCV001541154 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2020-08-04 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 with VHL-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with arginine at codon 49 of the VHL protein (p.Gly49Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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