ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+751G>C

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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 RCV003795251 SCV004590219 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-11-14 criteria provided, single submitter clinical testing 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). 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. This variant has been observed in individual(s) with multiple hemangioblastomas (Invitae). This variant is not present in population databases (gnomAD no frequency).

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