ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)

gnomAD frequency: 0.00003  dbSNP: rs199830512
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551247 SCV000648382 likely benign Dilated cardiomyopathy 1DD 2025-01-13 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852633 SCV000995338 likely benign Heart failure 2019-03-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000551247 SCV002049415 uncertain significance Dilated cardiomyopathy 1DD 2020-12-21 criteria provided, single submitter clinical testing The RBM20 c.3169C>T; p.Arg1057Trp variant (rs199830512), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 470608). This variant is found in the general population with an overall allele frequency of 0.01% (17/187988 alleles) in the Genome Aggregation Database. The arginine at codon 1057 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.189). Due to limited information, the clinical significance of the p.Arg1057Trp variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic RCV002261114 SCV002541108 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324011 SCV002607721 uncertain significance Cardiovascular phenotype 2024-06-07 criteria provided, single submitter clinical testing The p.R1057W variant (also known as c.3169C>T), located in coding exon 11 of the RBM20 gene, results from a C to T substitution at nucleotide position 3169. The arginine at codon 1057 is replaced by tryptophan, an amino acid with dissimilar properties. This variant has been detected in an individual with dilated cardiomyopathy (Robles-Mezcua A et al. Eur J Med Genet. 2021 Sep;64(9):104278). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV002261114 SCV005080509 uncertain significance not provided 2024-04-18 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Reported in an individual with DCM and in an individual with drug-induced arrhythmia in published literature (PMID: 34174465, 31376648); This variant is associated with the following publications: (PMID: 34174465, 31376648)

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