ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.280G>T (p.Glu94Ter) (rs5030829)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708631 SCV000821788 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Glutamate to a premature translational stop signal at codon 94 of the VHL protein. This is expected to result in an absent or disrupted protein product.. This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). The mutation database ClinVar contains entries for this variant (Variation ID: 584477).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000767251 SCV000897798 pathogenic Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001222557 SCV001394661 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu94*) 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 observed in several individuals and families affected with von Hippel-Lindau syndrome (PMID: 7987306, 12000816, 12624160, 22357542). This variant is also known as 493G>T and Glu165Ter in the literature. ClinVar contains an entry for this variant (Variation ID: 584477). 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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