Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000539926 | SCV000651854 | uncertain significance | BAP1-related tumor predisposition syndrome | 2023-07-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 472668). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 471 of the BAP1 protein (p.Ala471Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. |
| Ambry Genetics | RCV002395450 | SCV002701782 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-02 | criteria provided, single submitter | clinical testing | The p.A471V variant (also known as c.1412C>T), located in coding exon 13 of the BAP1 gene, results from a C to T substitution at nucleotide position 1412. The alanine at codon 471 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |