ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.218A>T (p.Gln73Leu)

dbSNP: rs1295818809
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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 RCV001065319 SCV001230275 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2019-12-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with VHL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 73 of the VHL protein (p.Gln73Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine.

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