Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036535 | SCV001199903 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2019-12-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). This variant has been observed in a family with clinical features of von Hippel-Lindau syndrome (PMID: 15300849). ClinVar contains an entry for this variant (Variation ID: 223159). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu55Glyfs*77) in the VHL gene. It is expected to result in an absent or disrupted protein product. |
Genomic Diagnostic Laboratory, |
RCV000208829 | SCV000264665 | pathogenic | Von Hippel-Lindau syndrome | 2016-02-26 | no assertion criteria provided | clinical testing |