Submissions for variant NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)

dbSNP: rs397516593

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036942	SCV000060598	benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing	p.Gln43_Pro44insGln in exon 1 of RBM20: This variant is not expected to have cli nical significance because it has been identified in 2.0% (133/6770) of South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs397516593).
GeneDx	RCV000183890	SCV000236372	uncertain significance	Cardiomyopathy	2014-04-29	criteria provided, single submitter	clinical testing	The c.128_130dupAGC variant in the RBM20 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This in-frame duplication does not occur in any of the domains thought to be critical to protein structure/function including Proline-rich domains, Glutamine-rich domains, or in the RNA Recognition Motif (RRM). The NHLBI ESP Exome Variant Server reports c.128_130dupAGC was not observed in approximately 2000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, population data from ethnically-matched backgrounds was not available at the time of this report. With the clinical and molecular information available at this time, we cannot definitively determine if c.128_130dupAGC is a disease-causing mutation or a rare benign variant. The variant is found in DCM,DCM-CRDM panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231300	SCV000286176	benign	Dilated cardiomyopathy 1DD	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392741	SCV000360331	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617613	SCV000736934	benign	Cardiovascular phenotype	2017-11-03	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000183890	SCV001333319	benign	Cardiomyopathy	2017-12-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036942	SCV002511610	likely benign	not specified	2022-04-09	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036942	SCV001920564	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036942	SCV001965244	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001729363	SCV001979421	likely benign	not provided		no assertion criteria provided	clinical testing