ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.211C>T (p.Pro71Ser)

dbSNP: rs1696129801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001319640 SCV001510396 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-02-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 71 of the VHL protein (p.Pro71Ser). This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt VHL protein function. ClinVar contains an entry for this variant (Variation ID: 1020108). This variant has not been reported in the literature in individuals affected with VHL-related conditions.

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