Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003750628 | SCV004521010 | uncertain significance | DICER1-related tumor predisposition | 2024-07-22 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 414 of the DICER1 protein (p.Asp414Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. 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. 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. |
| Ambry Genetics | RCV004950638 | SCV005566163 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-29 | criteria provided, single submitter | clinical testing | The p.D414G variant (also known as c.1241A>G), located in coding exon 7 of the DICER1 gene, results from an A to G substitution at nucleotide position 1241. The aspartic acid at codon 414 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Fulgent Genetics, |
RCV005013140 | SCV005637584 | uncertain significance | Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 2024-05-01 | criteria provided, single submitter | clinical testing |