ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2155del (p.Thr719fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002432526 SCV002731258 pathogenic Hereditary cancer-predisposing syndrome 2021-05-03 criteria provided, single submitter clinical testing The c.2155delA pathogenic mutation, located in coding exon 13 of the DICER1 gene, results from a deletion of one nucleotide at nucleotide position 2155, causing a translational frameshift with a predicted alternate stop codon (p.T719Lfs*39). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097977 SCV005841622 pathogenic DICER1-related tumor predisposition 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr719Leufs*39) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1786809). For these reasons, this variant has been classified as Pathogenic.

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