ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+617C>G

dbSNP: rs1575923261
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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 RCV002552003 SCV003449400 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-12-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD 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. Studies have shown that this variant alters VHL gene expression (PMID: 29891534). This variant has been observed in individual(s) with clinical features of von-Hippel Lindau disease (PMID: 29891534, 31996412). It has also been observed to segregate with disease on the same chromosome with another VHL variant, c.340+648T>C, in related individuals. This sequence change falls in intron 1 of the VHL gene. It is not expected to change the encoded amino acid sequence of the VHL protein. However, this sequence change falls within a cryptic exon in the VHL gene, known as exon E1’, which is naturally expressed at low levels in several human tissues (PMID: 29891534).

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