ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.341-11T>A

dbSNP: rs2125128187
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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 RCV001956145 SCV002245679 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the VHL protein in which other variant(s) (deletion of exon 2) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is associated with an increased skipping of exon 2, but the resulting mRNA isoform(s) may be naturally-occurring (PMID: 29891534, 31350093). Studies have shown that this variant results in skipping of exon 2, but is expected to preserve the integrity of the reading-frame (PMID: 22825683; Invitae). This variant has been observed in individual(s) with von Hippel-Lindau (VHL) syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the VHL gene. It does not directly change the encoded amino acid sequence of the VHL protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.

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