ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.512A>G (p.Lys171Arg)

dbSNP: rs1696358528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299192 SCV001488271 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2020-06-30 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 171 of the VHL protein (p.Lys171Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals with VHL-related conditions. 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. This variant has been reported to affect VHL protein function (PMID: 20300531, 20844582).
All of Us Research Program, National Institutes of Health RCV004004982 SCV004834472 uncertain significance Von Hippel-Lindau syndrome 2024-01-11 criteria provided, single submitter clinical testing

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