Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001046817 | SCV001210734 | uncertain significance | Bloom syndrome | 2021-02-24 | 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 C15"). 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 aspartic acid with valine at codon 983 of the BLM protein (p.Asp983Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. |
| Ambry Genetics | RCV002436574 | SCV002749997 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-10 | criteria provided, single submitter | clinical testing | The p.D983V variant (also known as c.2948A>T), located in coding exon 14 of the BLM gene, results from an A to T substitution at nucleotide position 2948. The aspartic acid at codon 983 is replaced by valine, an amino acid with highly dissimilar 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. |