Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000805709 | SCV000945675 | uncertain significance | BAP1-related tumor predisposition syndrome | 2018-09-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BAP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 123 of the BAP1 protein (p.Ser123Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. |
| Ambry Genetics | RCV003166252 | SCV003864311 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-05 | criteria provided, single submitter | clinical testing | The p.S123C variant (also known as c.367A>T), located in coding exon 5 of the BAP1 gene, results from an A to T substitution at nucleotide position 367. The serine at codon 123 is replaced by cysteine, an amino acid with dissimilar 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. |