ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp)

gnomAD frequency: 0.00002  dbSNP: rs1458326422
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037270 SCV001200676 benign Dilated cardiomyopathy 1DD 2025-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327254 SCV002633848 uncertain significance Cardiovascular phenotype 2023-02-04 criteria provided, single submitter clinical testing The p.R163W variant (also known as c.487C>T), located in coding exon 2 of the RBM20 gene, results from a C to T substitution at nucleotide position 487. The arginine at codon 163 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001037270 SCV002785467 uncertain significance Dilated cardiomyopathy 1DD 2021-07-13 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.