Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000550933 | SCV000623301 | uncertain significance | Bloom syndrome | 2017-06-25 | 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 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with threonine at codon 1038 of the BLM protein (p.Arg1038Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. |
| Counsyl | RCV000550933 | SCV000799115 | uncertain significance | Bloom syndrome | 2018-04-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002323903 | SCV002607747 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-07 | criteria provided, single submitter | clinical testing | The p.R1038T variant (also known as c.3113G>C), located in coding exon 15 of the BLM gene, results from a G to C substitution at nucleotide position 3113. The arginine at codon 1038 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |