ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)

gnomAD frequency: 0.00001  dbSNP: rs1371567866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340695 SCV001534518 likely benign Dilated cardiomyopathy 1DD 2024-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382536 SCV004096533 uncertain significance Cardiovascular phenotype 2023-07-20 criteria provided, single submitter clinical testing The p.G758S variant (also known as c.2272G>A), located in coding exon 9 of the RBM20 gene, results from a G to A substitution at nucleotide position 2272. The glycine at codon 758 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729852 SCV001978192 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729852 SCV001979473 likely benign not provided no assertion criteria provided clinical testing

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