ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.531A>T (p.Arg177Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320544 SCV001511334 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2020-07-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 177 of the VHL protein (p.Arg177Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs766088261, ExAC 0.002%). This variant has not been reported in the literature in individuals with VHL-related conditions. 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.

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