Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000767267 | SCV000897818 | pathogenic | Von Hippel-Lindau syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003768302 | SCV004569650 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2023-03-16 | criteria provided, single submitter | clinical testing | This variant is also known as 608delA. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 625244). This premature translational stop signal has been observed in individual(s) with von Hippel-Lindau syndrome (PMID: 9829911). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr133Leufs*26) 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). |