Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001211120 | SCV001382645 | uncertain significance | DICER1-related tumor predisposition | 2020-01-09 | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DICER1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 234 of the DICER1 protein (p.Ala234Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
| Ambry Genetics | RCV002365950 | SCV002666559 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-26 | criteria provided, single submitter | clinical testing | The p.A234V variant (also known as c.701C>T), located in coding exon 5 of the DICER1 gene, results from a C to T substitution at nucleotide position 701. The alanine at codon 234 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |