ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.29A>T (p.Glu10Val)

dbSNP: rs786204065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000167948 SCV000218596 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 10 of the VHL protein (p.Glu10Val). This variant is not present in population databases (gnomAD no frequency). 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: 188098). 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 with a negative predictive value of 95%. 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 RCV003462253 SCV004208768 uncertain significance Chuvash polycythemia 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019998 SCV005036782 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-21 criteria provided, single submitter clinical testing The p.E10V variant (also known as c.29A>T), located in coding exon 1 of the VHL gene, results from an A to T substitution at nucleotide position 29. The glutamic acid at codon 10 is replaced by valine, an amino acid with dissimilar 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.

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