Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015521 | SCV001176364 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-11 | criteria provided, single submitter | clinical testing | The p.K812E variant (also known as c.2434A>G), located in coding exon 11 of the BLM gene, results from an A to G substitution at nucleotide position 2434. The lysine at codon 812 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001056497 | SCV001220940 | uncertain significance | Bloom syndrome | 2019-03-01 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 glutamic acid at codon 812 of the BLM protein (p.Lys812Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. |
Natera, |
RCV001056497 | SCV002088068 | uncertain significance | Bloom syndrome | 2021-08-04 | no assertion criteria provided | clinical testing |