ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003800681 SCV004592589 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2023-07-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the VHL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of von Hippel-Lindau syndrome (PMID: 9829912, 30900640). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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