ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.340+682T>C

dbSNP: rs1696160646
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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 RCV001239062 SCV001411908 uncertain significance Chuvash polycythemia; Von Hippel-Lindau syndrome 2022-10-13 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant disrupts the relative levels of naturally occurring VHL mRNA isoforms, increasing expression of exon E1’ containing isoforms and decreasing the expression of the major mRNA isoforms of VHL which do not contain exon E1’ (PMID: 31996412) ClinVar contains an entry for this variant (Variation ID: 964770). This variant has been observed in individual(s) with pheochromocytoma (PMID: 31996412). This variant is not present in population databases (gnomAD no frequency). 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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