Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000709356 | SCV000838950 | uncertain significance | Bloom syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000709356 | SCV001219618 | uncertain significance | Bloom syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with asparagine at codon 205 of the BLM protein (p.Lys205Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 584881). 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 tolerated. 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 | RCV002352227 | SCV002655765 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-31 | criteria provided, single submitter | clinical testing | The p.K205N variant (also known as c.615G>C), located in coding exon 2 of the BLM gene, results from a G to C substitution at nucleotide position 615. The lysine at codon 205 is replaced by asparagine, 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. |