ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4796G>A (p.Arg1599Gln)

gnomAD frequency: 0.00002  dbSNP: rs569615549
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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 RCV000457830 SCV000563426 likely benign DICER1-related tumor predisposition 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023063 SCV001184880 likely benign Hereditary cancer-predisposing syndrome 2021-07-14 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 RCV001023063 SCV002533021 likely benign Hereditary cancer-predisposing syndrome 2022-01-15 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316629 SCV004017408 likely benign Pleuropulmonary blastoma 2023-07-07 criteria provided, single submitter clinical testing

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