ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.425T>C (p.Val142Ala)

dbSNP: rs1553619979
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631266 SCV000752294 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with VHL-related disease. This sequence change replaces valine with alanine at codon 142 of the VHL protein (p.Val142Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). 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 alanine 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. 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.

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