Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000679031 | SCV000805338 | pathogenic | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531399 | SCV003525037 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2022-04-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with von Hippel–Lindau syndrome (PMID: 28388566). ClinVar contains an entry for this variant (Variation ID: 560741). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His110Profs*49) 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). |