Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000570286 | SCV000672999 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | The p.Q1166L variant (also known as c.3497A>T), located in coding exon 17 of the BLM gene, results from an A to T substitution at nucleotide position 3497. The glutamine at codon 1166 is replaced by leucine, an amino acid with dissimilar 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. |
| Invitae | RCV000797814 | SCV000937395 | uncertain significance | Bloom syndrome | 2022-05-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1166 of the BLM protein (p.Gln1166Leu). This variant is present in population databases (rs371774802, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485363). 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. |
| Natera, |
RCV000797814 | SCV001461119 | uncertain significance | Bloom syndrome | 2020-04-24 | no assertion criteria provided | clinical testing |