ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.51G>T (p.Glu17Asp)

dbSNP: rs2125124538
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360453 SCV001556369 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-10-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1052300). 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 affected with VHL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 17 of the VHL protein (p.Glu17Asp).
GeneDx RCV001773713 SCV001992654 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002341754 SCV002641972 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-08 criteria provided, single submitter clinical testing The p.E17D variant (also known as c.51G>T), located in coding exon 1 of the VHL gene, results from a G to T substitution at nucleotide position 51. The glutamic acid at codon 17 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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.
Baylor Genetics RCV004570870 SCV005055794 uncertain significance Chuvash polycythemia 2024-02-19 criteria provided, single submitter clinical testing

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