Submissions for variant NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)

gnomAD frequency: 0.00165  dbSNP: rs117358479

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989258	SCV000262404	benign	DICER1-related tumor predisposition	2025-02-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000989258	SCV000389773	benign	DICER1-related tumor predisposition	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000433632	SCV000511189	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV000493327	SCV000581579	likely benign	Hereditary cancer-predisposing syndrome	2019-04-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000433632	SCV000729805	likely benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 27320919, 28615371, 21266384)
Mendelics	RCV000989258	SCV001139513	likely benign	DICER1-related tumor predisposition	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000433632	SCV001149328	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	DICER1: BS1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	RCV000120631	SCV001371880	likely benign	not specified	2019-07-01	criteria provided, single submitter	curation	ACMG criteria met: BS1, BS2, BP1, BP4, BP6
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262126	SCV001439889	likely benign	Breast neoplasm	2019-01-01	criteria provided, single submitter	clinical testing	This variant was identified as compound heterozygous.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000433632	SCV002011643	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000433632	SCV002506007	likely benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000493327	SCV002532492	likely benign	Hereditary cancer-predisposing syndrome	2021-03-17	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120631	SCV002551577	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120631	SCV002774312	benign	not specified	2021-07-28	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315745	SCV004017403	benign	Pleuropulmonary blastoma	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120631	SCV000084792	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000433632	SCV001808692	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000433632	SCV001929612	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000433632	SCV001955360	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000433632	SCV001970377	likely benign	not provided		no assertion criteria provided	clinical testing