Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001232224 | SCV001404772 | uncertain significance | DICER1-related tumor predisposition | 2023-11-08 | criteria provided, single submitter | clinical testing | This variant, c.2190_2192del, results in the deletion of 1 amino acid(s) of the DICER1 protein (p.Asp730del), but otherwise preserves the integrity of the reading frame. 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. ClinVar contains an entry for this variant (Variation ID: 958959). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002418795 | SCV002725358 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-13 | criteria provided, single submitter | clinical testing | The c.2190_2192delTGA variant (also known as p.D730del) is located in coding exon 13 of the DICER1 gene. This variant results from an in-frame TGA deletion at nucleotide positions 2190 to 2192. This results in the in-frame deletion of an aspartic acid at codon 730. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be inconclusive by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |