ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)

gnomAD frequency: 0.00004  dbSNP: rs529403382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530425 SCV000648369 likely benign Dilated cardiomyopathy 1DD 2024-11-24 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852424 SCV000995108 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2017-12-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798892 SCV002042302 uncertain significance Cardiomyopathy 2020-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659102 SCV005160749 uncertain significance Cardiovascular phenotype 2024-05-03 criteria provided, single submitter clinical testing The p.R791W variant (also known as c.2371C>T), located in coding exon 9 of the RBM20 gene, results from a C to T substitution at nucleotide position 2371. The arginine at codon 791 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in a dilated cardiomyopathy (DCM) cohort; however, clinical details were limited (Horvat C et al. Genet Med, 2019 Jan;21:133-143). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000530425 SCV005664688 uncertain significance Dilated cardiomyopathy 1DD 2024-05-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.