Submissions for variant NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)

gnomAD frequency: 0.00001  dbSNP: rs866975469

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228113	SCV000286198	likely benign	Dilated cardiomyopathy 1DD	2023-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619316	SCV000736142	uncertain significance	Cardiovascular phenotype	2020-03-06	criteria provided, single submitter	clinical testing	The p.E1026K variant (also known as c.3076G>A), located in coding exon 11 of the RBM20 gene, results from a G to A substitution at nucleotide position 3076. The glutamic acid at codon 1026 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852425	SCV000995109	uncertain significance	Cardiomyopathy	2019-03-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000852425	SCV001333579	uncertain significance	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293118	SCV001434108	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research