ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.29A>T (p.Glu10Val) (rs786204065)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167948 SCV000218596 uncertain significance Von Hippel-Lindau syndrome 2014-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 10 of the VHL protein (p.Glu10Val). The Glu residue is moderately conserved and there is a moderate physicochemical difference between Glu and Val. This sequence change has not been published in the literature and is not present in population databases. 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"; MutationTaster: "polymorphism"; Align-GVGD: "C0"). In summary, this is a novel missense change. Although there is no indication that this sequence change affects protein function or causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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