ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.988C>T (p.Gln330Ter)

dbSNP: rs1893239532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV001200994 SCV001371972 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PVS1, PM2, PM7
Labcorp Genetics (formerly Invitae), Labcorp RCV001200994 SCV002123114 pathogenic DICER1-related tumor predisposition 2020-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln330*) in the DICER1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of DICER1 syndrome (PMID: 29938629). ClinVar contains an entry for this variant (Variation ID: 933007). For these reasons, this variant has been classified as Pathogenic.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001200994 SCV005689653 pathogenic DICER1-related tumor predisposition 2025-01-24 criteria provided, single submitter clinical testing The following ACMG criteria have been used in classification: PM2_SUP; PVS1; PS4_SUP

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