Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021392 | SCV001183004 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-22 | criteria provided, single submitter | clinical testing | The p.G13V variant (also known as c.38G>T), located in coding exon 1 of the DICER1 gene, results from a G to T substitution at nucleotide position 38. The glycine at codon 13 is replaced by valine, 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 | RCV001054920 | SCV001219279 | uncertain significance | DICER1-related tumor predisposition | 2022-11-29 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 824357). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 13 of the DICER1 protein (p.Gly13Val). |
Baylor Genetics | RCV003473590 | SCV004193488 | uncertain significance | Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 2023-05-11 | criteria provided, single submitter | clinical testing |