Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001971262 | SCV002266400 | uncertain significance | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2021-07-11 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change creates a premature translational stop signal (p.Gln203*) in the VHL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the VHL protein. This variant is present in population databases (rs750711842, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with VHL-related conditions. |
| Ambry Genetics | RCV004042260 | SCV005036786 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | The p.Q203* variant (also known as c.607C>T), located in coding exon 3 of the VHL gene, results from a C to T substitution at nucleotide position 607. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This alteration occurs at the 3' terminus of theVHL gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 11 amino acids of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, the clinical significance of this alteration remains unclear. |