ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.4401_4402CT[2] (p.Leu1469fs) (rs1064795904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478954 SCV000572145 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing This deletion of two nucleotides in DICER1 is denoted c.4405_4406delCT at the cDNA level and p.Leu1469PhefsX7 (L1469FfsX7) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CTCT[delCT]TTCT. The deletion causes a frameshift which changes a Leucine to a Phenylalanine at codon 1469, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a pathogenic variant.
Invitae RCV000654427 SCV000776321 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1469Phefs*7) 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). This variant has not been reported in the literature in individuals with DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 422631). Loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics RCV000478954 SCV000993699 likely pathogenic not provided 2016-04-26 criteria provided, single submitter clinical testing

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