Submissions for variant NM_177438.3(DICER1):c.2392dup (p.Thr798fs)

dbSNP: rs886037690

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota	RCV000240963	SCV000195590	pathogenic	DICER1-related tumor predisposition	2014-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000493145	SCV000581613	pathogenic	Hereditary cancer-predisposing syndrome	2023-06-01	criteria provided, single submitter	clinical testing	The c.2392dupA pathogenic mutation, located in coding exon 14 of the DICER1 gene, results from a duplication of A at nucleotide position 2392, causing a translational frameshift with a predicted alternate stop codon (p.T798Nfs*33). This alteration has been observed in individuals with a personal and/or family history that is consistent with DICER1-related disease (Hill DA et al. Science, 2009 Aug;325:965; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	RCV000240963	SCV001371983	pathogenic	DICER1-related tumor predisposition	2019-07-01	criteria provided, single submitter	curation	ACMG criteria met: PVS1, PM2, PP4
OMIM	RCV002282086	SCV000024904	pathogenic	Pleuropulmonary blastoma	2009-08-21	no assertion criteria provided	literature only