Submissions for variant NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)

gnomAD frequency: 0.00108  dbSNP: rs183130427

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036999	SCV000060655	likely benign	not specified	2013-09-26	criteria provided, single submitter	clinical testing	Thr177Ile in exon 2 of RBM20: This variant is not expected to have clinical sign ificance because it has been identified in 1.7% (3/176) of Yoruba (African) chro mosomes by the 1000 Genomes project (dbSNP rs183130427). Thr177Ile in exon 2 of RBM20 (rs183130427; allele frequency = 1.7%, 3/176)
Eurofins Ntd Llc (ga)	RCV000723940	SCV000227208	uncertain significance	not provided	2014-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000723940	SCV000514378	likely benign	not provided	2020-12-10	criteria provided, single submitter	clinical testing
Invitae	RCV001086043	SCV000562770	benign	Dilated cardiomyopathy 1DD	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620938	SCV000737056	benign	Cardiovascular phenotype	2015-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852628	SCV000995332	benign	Cardiomyopathy	2019-04-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000852628	SCV001333321	benign	Cardiomyopathy	2019-01-11	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001086043	SCV003920383	uncertain significance	Dilated cardiomyopathy 1DD	2021-03-30	criteria provided, single submitter	clinical testing	RBM20 NM_001134363.2 exon 2 p.Thr177Ile (c.530C>T): This variant has not been reported in the literature and is present in 0.5% (84/16618) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/10-112540897-C-T). This variant is also present in ClinVar, with several labs classifying this variant as benign or likely benign (Variation ID:44024). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036999	SCV004038041	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036999	SCV001920009	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723940	SCV001930179	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036999	SCV001975903	benign	not specified		no assertion criteria provided	clinical testing