Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226762 | SCV001399086 | uncertain significance | Bloom syndrome | 2023-07-25 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 954323). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is present in population databases (rs772175681, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 156 of the BLM protein (p.Asp156Gly). |
Ambry Genetics | RCV002339617 | SCV002638165 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-12 | criteria provided, single submitter | clinical testing | The p.D156G variant (also known as c.467A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 467. The aspartic acid at codon 156 is replaced by glycine, 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. |
Natera, |
RCV001226762 | SCV002089932 | uncertain significance | Bloom syndrome | 2020-08-18 | no assertion criteria provided | clinical testing |