Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001559216 | SCV001781338 | uncertain significance | Bloom syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001559216 | SCV002295731 | uncertain significance | Bloom syndrome | 2022-02-09 | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1195930). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 564 of the BLM protein (p.Asp564Val). |
Ambry Genetics | RCV004946717 | SCV005544485 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-07-24 | criteria provided, single submitter | clinical testing | The p.D564V variant (also known as c.1691A>T), located in coding exon 6 of the BLM gene, results from an A to T substitution at nucleotide position 1691. The aspartic acid at codon 564 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 tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |