ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3091C>T (p.Gln1031Ter)

dbSNP: rs1891353130
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Total submissions: 2
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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 RCV001201125 SCV001372163 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PVS1, PM2, PP4
Invitae RCV001201125 SCV002191342 pathogenic DICER1-related tumor predisposition 2023-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1031*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 933108). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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