ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3304_3311delinsT (p.Ile1102fs)

dbSNP: rs1891190597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243782 SCV001416964 pathogenic DICER1-related tumor predisposition 2021-06-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1102Serfs*40) 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. This variant has not been reported in the literature in individuals with DICER1-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002322154 SCV002607090 pathogenic Hereditary cancer-predisposing syndrome 2020-02-10 criteria provided, single submitter clinical testing The c.3304_3311delATTGACAGinsT pathogenic mutation, located in coding exon 20 of the DICER1 gene, results from the deletion of 8 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.I1102Sfs*40). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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