ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.920G>A (p.Arg307His)

gnomAD frequency: 0.00001  dbSNP: rs149718671
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226203 SCV000291730 likely benign DICER1-related tumor predisposition 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570173 SCV000669341 likely benign Hereditary cancer-predisposing syndrome 2023-12-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001555417 SCV001776835 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28748527)
Fulgent Genetics, Fulgent Genetics RCV002494670 SCV002784086 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2021-08-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469171 SCV004193324 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742349 SCV005349859 uncertain significance DICER1-related disorder 2024-09-12 no assertion criteria provided clinical testing The DICER1 c.920G>A variant is predicted to result in the amino acid substitution p.Arg307His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of African descent in gnomAD. This variant has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from likely benign to uncertain (https://preview.ncbi.nlm.nih.gov/clinvar/variation/242153/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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