ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2719A>G (p.Ile907Val)

gnomAD frequency: 0.00001  dbSNP: rs1178414622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068004 SCV001233091 uncertain significance DICER1-related tumor predisposition 2024-07-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 907 of the DICER1 protein (p.Ile907Val). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 861474). 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 with a negative predictive value of 80%. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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 RCV002429728 SCV002741438 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter clinical testing The p.I907V variant (also known as c.2719A>G), located in coding exon 16 of the DICER1 gene, results from an A to G substitution at nucleotide position 2719. The isoleucine at codon 907 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well 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.

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