ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4671_4672del (p.Ser1558fs)

dbSNP: rs1890322492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214905 SCV001386613 pathogenic DICER1-related tumor predisposition 2019-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DICER1-related conditions. This sequence change creates a premature translational stop signal (p.Ser1558Hisfs*37) in the DICER1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). For these reasons, this variant has been classified as Pathogenic.

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