ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.279C>T (p.Gly93=)

dbSNP: rs1696136079
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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 RCV001350958 SCV001545386 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2020-07-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with VHL-related conditions. This sequence change affects codon 93 of the VHL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the VHL protein.

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