ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2774A>G (p.Glu925Gly)

dbSNP: rs1891554361
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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 RCV001206832 SCV001378161 uncertain significance DICER1-related tumor predisposition 2023-07-17 criteria provided, single submitter clinical testing 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: 937744). 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 not 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 925 of the DICER1 protein (p.Glu925Gly).
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153943 SCV003843626 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294005 SCV004004058 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-14 criteria provided, single submitter clinical testing The p.E925G variant (also known as c.2774A>G), located in coding exon 16 of the DICER1 gene, results from an A to G substitution at nucleotide position 2774. The glutamic acid at codon 925 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.

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