ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.339_340+5del

dbSNP: rs1575922562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792121 SCV000931399 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2018-11-07 criteria provided, single submitter clinical testing This sequence change removes the last 2 nucelotides from exon 1, and affects a donor splice site in intron 1 of the VHL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.

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