ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2651-2A>G (rs1060503596)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474722 SCV000553514 likely pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-04-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the DICER1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DICER1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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