ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.169G>T (p.Gly57Trp)

dbSNP: rs1064795194
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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 RCV000798890 SCV000938530 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-06-13 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 644898). 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 glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 57 of the VHL protein (p.Gly57Trp).
Ambry Genetics RCV001012789 SCV001173289 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-06 criteria provided, single submitter clinical testing The p.G57W variant (also known as c.169G>T), located in coding exon 1 of the VHL gene, results from a G to T substitution at nucleotide position 169. The glycine at codon 57 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is not 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.
Baylor Genetics RCV003467375 SCV004208749 uncertain significance Chuvash polycythemia 2023-09-06 criteria provided, single submitter clinical testing

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