ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.47A>C (p.Glu16Ala) (rs864622379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662539 SCV000785116 uncertain significance Von Hippel-Lindau syndrome 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000204236 SCV000260381 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 16 of the VHL protein (p.Glu16Ala). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a VHL-related disease. ClinVar contains an entry for this variant (Variation ID: 220099). 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 C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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