ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.194C>A (p.Ser65Ter) (rs5030826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213116 SCV001384733 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2019-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser65*) 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 families affected with von Hippel-Lindau disease (PMID: 7977367). This variant is also known as 407T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 223161). 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. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208831 SCV000264668 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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