Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000813757 | SCV000954129 | uncertain significance | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 657192). This variant has not been reported in the literature in individuals affected with VHL-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.112_156dup, results in the insertion of 15 amino acid(s) of the VHL protein (p.Ser38_Glu52dup), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV002440776 | SCV002751887 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | The c.112_156dup45 variant (also known as p.S38_E52dup), located in coding exon 1 of the VHL gene, results from an in-frame duplication of 45 nucleotides at nucleotide positions 112 to 156. This results in the duplication of 15 extra residues (SGPEESGPEELGAEE) between codons 38 and 52. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003461218 | SCV004208774 | uncertain significance | Chuvash polycythemia | 2023-06-04 | criteria provided, single submitter | clinical testing |