ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.634G>T (p.Gly212Ter) (rs1553620389)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508553 SCV000605564 uncertain significance not specified 2017-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575054 SCV000675815 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000556062 SCV000626915 uncertain significance Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2017-06-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the VHL gene (p.Gly212*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 2 amino acids of the VHL protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a VHL-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on VHL function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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