Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000776733 | SCV000912374 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-26 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000822992 | SCV000963825 | uncertain significance | BAP1-related tumor predisposition syndrome | 2024-07-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 207 of the BAP1 protein (p.Arg207Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 630741). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BAP1 protein function. 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. |
| Ambry Genetics | RCV000776733 | SCV001187121 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-05 | criteria provided, single submitter | clinical testing | The p.R207Q variant (also known as c.620G>A), located in coding exon 8 of the BAP1 gene, results from a G to A substitution at nucleotide position 620. The arginine at codon 207 is replaced by glutamine, an amino acid with highly similar properties. This variant has been observed in at least one individual with a personal and/or family history that is consistent with BAP1-related tumor predisposition syndrome (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Gene |
RCV004588224 | SCV005079960 | uncertain significance | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |