Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003614955 | SCV004466684 | uncertain significance | Bloom syndrome | 2023-05-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 367 of the BLM protein (p.Ser367Thr). This variant is not present in population databases (gnomAD no frequency). 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. 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 BLM protein function. This variant has not been reported in the literature in individuals affected with BLM-related conditions. |
| Ambry Genetics | RCV004950584 | SCV005544481 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-24 | criteria provided, single submitter | clinical testing | The p.S367T variant (also known as c.1100G>C), located in coding exon 5 of the BLM gene, results from a G to C substitution at nucleotide position 1100. The serine at codon 367 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |