ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.263G>A (p.Trp88Ter) (rs119103277)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000161086 SCV000211821 pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing The W88X nonsense mutation in the VHL gene has been reported previously in association with von Hippel-Lindau syndrome (Mattocks et al., 2000; Gallou et al., 1999). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in VHL panel(s).
Ambry Genetics RCV000492395 SCV000580963 pathogenic Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208798 SCV000264687 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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