Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220866 | SCV001392878 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2019-06-26 | 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 an individual affected with von Hippel-Lindau syndrome ( Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn90Alafs*43) in the VHL gene. It is expected to result in an absent or disrupted protein product. |