Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001370304 | SCV001566775 | uncertain significance | Bloom syndrome | 2022-01-27 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 870 of the BLM protein (p.Lys870Gln). This variant is not present in population databases (gnomAD 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: 1060824). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV004037467 | SCV005022490 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-08 | criteria provided, single submitter | clinical testing | The p.K870Q variant (also known as c.2608A>C), located in coding exon 12 of the BLM gene, results from an A to C substitution at nucleotide position 2608. The lysine at codon 870 is replaced by glutamine, 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. |
| Natera, |
RCV001370304 | SCV002088093 | uncertain significance | Bloom syndrome | 2021-06-23 | no assertion criteria provided | clinical testing |