ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.434A>T (p.Gln145Leu) (rs864622313)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203944 SCV000260093 uncertain significance Von Hippel-Lindau syndrome 2015-08-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 145 of the VHL protein (p.Gln145Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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