ClinVar Miner

Submissions for variant NC_000003.11:g.(?_10183532)_(10188330_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386426 SCV001586632 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the VHL gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531, 29891534, 31350093). A similar copy number variant has been observed in individuals with clinical features of von Hippel-Lindau syndrome (PMID: 10830910, 27527340). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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