ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2689A>G (p.Met897Val)

gnomAD frequency: 0.00001  dbSNP: rs373729361
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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 RCV000458127 SCV000553526 uncertain significance DICER1-related tumor predisposition 2024-11-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 897 of the DICER1 protein (p.Met897Val). 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. ClinVar contains an entry for this variant (Variation ID: 412070). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DICER1 protein function with a negative predictive value of 95%. 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 RCV001016300 SCV001177240 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-17 criteria provided, single submitter clinical testing The p.M897V variant (also known as c.2689A>G), located in coding exon 16 of the DICER1 gene, results from an A to G substitution at nucleotide position 2689. The methionine at codon 897 is replaced by valine, an amino acid with highly 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.
Sema4, Sema4 RCV001016300 SCV002532517 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-26 criteria provided, single submitter curation

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