ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.415_416TC[2] (p.Leu140fs) (rs869025649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208805 SCV000264733 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing
Invitae RCV000631281 SCV000752309 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2017-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu140Glnfs*3) in the VHL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with von Hippel-Lindau disease (PMID: 9829912). ClinVar contains an entry for this variant (Variation ID: 223207). Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.

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