Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000679022 | SCV000805327 | pathogenic | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001218191 | SCV001390063 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln73*) in the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531, 29891534, 31350093). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with von Hippel-Lindau disease (PMID: 7728151, 27527340). This variant is also known as a stop at codon 144. ClinVar contains an entry for this variant (Variation ID: 223164). For these reasons, this variant has been classified as Pathogenic. |
Genomic Diagnostic Laboratory, |
RCV000208804 | SCV000264673 | pathogenic | Von Hippel-Lindau syndrome | 2016-02-26 | no assertion criteria provided | clinical testing |