ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.205C>T (p.Arg69Cys)

dbSNP: rs1428175816
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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 RCV001368675 SCV001565081 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2020-02-26 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. This variant has been reported to affect VHL protein function (PMID: 15611064). 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 arginine with cysteine at codon 69 of the VHL protein (p.Arg69Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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