ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.337C>T (p.Arg113Ter) (rs5030810)

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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 RCV000204250 SCV000264712 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing
Invitae RCV000456132 SCV000260935 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2016-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 113 (p.Arg113*) 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. This particular variant has been reported in several individuals with von Hippel-Lindau syndrome (PMID: 7987306, 22799452, 19464396, 15300849). This variant is also known as 550C>T (codon 184 ARG>TER) in the literature. For these reasons, this variant has been classified as Pathogenic.

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