Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000628685 | SCV000749591 | uncertain significance | Bloom syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with glycine at codon 1167 of the BLM protein (p.Ala1167Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. 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. 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: "Probably 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 | RCV002457975 | SCV002615102 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-15 | criteria provided, single submitter | clinical testing | The p.A1167G variant (also known as c.3500C>G), located in coding exon 17 of the BLM gene, results from a C to G substitution at nucleotide position 3500. The alanine at codon 1167 is replaced by glycine, 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, |
RCV000628685 | SCV002090575 | uncertain significance | Bloom syndrome | 2021-01-21 | no assertion criteria provided | clinical testing |