Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001214754 | SCV001386455 | uncertain significance | DICER1-related tumor predisposition | 2023-07-25 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DICER1 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 944370). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 382 of the DICER1 protein (p.Glu382Lys). |
| Ambry Genetics | RCV002451468 | SCV002613699 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-30 | criteria provided, single submitter | clinical testing | The p.E382K variant (also known as c.1144G>A), located in coding exon 7 of the DICER1 gene, results from a G to A substitution at nucleotide position 1144. The glutamic acid at codon 382 is replaced by lysine, 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. |