Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001300683 | SCV001489832 | uncertain significance | Bloom syndrome | 2020-08-27 | criteria provided, single submitter | clinical testing | 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: "Tolerated"; 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. This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 531 of the BLM protein (p.Lys531Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. |
| Ambry Genetics | RCV002402837 | SCV002706808 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-09-30 | criteria provided, single submitter | clinical testing | The p.K531N variant (also known as c.1593A>T), located in coding exon 6 of the BLM gene, results from an A to T substitution at nucleotide position 1593. The lysine at codon 531 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |