ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1526G>A (p.Arg509Gln)

dbSNP: rs2140126745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031636 SCV002312458 uncertain significance DICER1-related tumor predisposition 2023-06-29 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 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: 1524330). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 509 of the DICER1 protein (p.Arg509Gln). 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.
Ambry Genetics RCV002391142 SCV002705163 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-08 criteria provided, single submitter clinical testing The p.R509Q variant (also known as c.1526G>A), located in coding exon 9 of the DICER1 gene, results from a G to A substitution at nucleotide position 1526. The arginine at codon 509 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008443 SCV005637583 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-07 criteria provided, single submitter clinical testing

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