ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+1G>C

dbSNP: rs730882032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589885 SCV000697500 likely pathogenic Von Hippel-Lindau syndrome 2016-02-04 criteria provided, single submitter clinical testing
Invitae RCV001850279 SCV002229622 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-08-09 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, 29891534, 31350093). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals with clinical features of von Hippel-Lindau syndrome (PMID: 9829912, 27527340, 30900640). ClinVar contains an entry for this variant (Variation ID: 182973). 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.
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV003328124 SCV004035077 not provided not provided no assertion provided research

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