ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2987+1G>A

dbSNP: rs1555370248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654454 SCV000776348 likely pathogenic DICER1-related tumor predisposition 2017-10-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). This variant has not been reported in the literature in individuals with DICER1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 18 of the DICER1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000654454 SCV001372153 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PVS1, PM2, PP4

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