ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)

gnomAD frequency: 0.00003  dbSNP: rs1021465138
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 RCV001367831 SCV001564197 likely benign Dilated cardiomyopathy 1DD 2024-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413879 SCV002723231 uncertain significance Cardiovascular phenotype 2024-02-01 criteria provided, single submitter clinical testing The p.T356P variant (also known as c.1066A>C), located in coding exon 2 of the RBM20 gene, results from an A to C substitution at nucleotide position 1066. The threonine at codon 356 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly 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 RCV001367831 SCV002780255 uncertain significance Dilated cardiomyopathy 1DD 2024-03-19 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.