ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4227G>A (p.Ala1409=)

gnomAD frequency: 0.00001  dbSNP: rs766248937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234338 SCV000291681 benign DICER1-related tumor predisposition 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022089 SCV001183785 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 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.
Sema4, Sema4 RCV001022089 SCV002530783 likely benign Hereditary cancer-predisposing syndrome 2021-02-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477843 SCV004221842 likely benign not provided 2023-06-05 criteria provided, single submitter clinical testing

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