ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+816A>C

gnomAD frequency: 0.00001  dbSNP: rs1031288121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050041 SCV001214128 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2024-01-18 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). This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with erythrocytosis (PMID: 29891534). ClinVar contains an entry for this variant (Variation ID: 846679). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003325989 SCV003853409 uncertain significance Chuvash polycythemia 2023-03-23 criteria provided, single submitter clinical testing

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