ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.575C>T (p.Pro192Leu) (rs902694906)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767296 SCV000897854 uncertain significance Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000631274 SCV000752302 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2018-01-17 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 192 of the VHL protein (p.Pro192Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VHL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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.
PreventionGenetics RCV000679044 SCV000805358 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing

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