ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.23G>T (p.Trp8Leu)

dbSNP: rs1060503551
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205122 SCV001376360 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2019-08-21 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with leucine at codon 8 of the VHL protein (p.Trp8Leu). The tryptophan residue is weakly conserved and there is a small physicochemical difference between tryptophan and leucine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with VHL-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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