ClinVar Miner

Submissions for variant NC_000003.12:g.(?_10149777)_(10149975_?)del

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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 RCV000807235 SCV000947278 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2019-06-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 3 of the VHL gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated VHL protein. Deletion of exon 3 has been reported in multiple families with von Hippel-Lindau (VHL) Syndrome (PMID: 19280651, 8069305, 8707293). This deletion includes the elongin binding domain of VHL (PMID: 14987375), which is required for protein stability and tumor suppressive activity (PMID: 10900011). There are a number of missense and nonsense mutations found in exon 3 in individuals with von Hippel-Lindau syndrome, further demonstrating the importance of this region (PMID: 8707293). For these reasons, this variant has been classified as Pathogenic.

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