Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081756 | SCV000816662 | likely benign | Dilated cardiomyopathy 1DD | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442433 | SCV002737922 | uncertain significance | Cardiovascular phenotype | 2023-08-10 | criteria provided, single submitter | clinical testing | The p.R755H variant (also known as c.2264G>A), located in coding exon 9 of the RBM20 gene, results from a G to A substitution at nucleotide position 2264. The arginine at codon 755 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) cohorts (Lopes LR et al. Heart, 2015 Feb;101:294-301; Horvat C et al. Genet. Med., 2019 01;21:133-143; Dai J et al. Can J Cardiol, 2021 Nov;37:1751-1759). This alteration was also reported in a control subject (Neoldová M et al. Pharmacogenomics, 2016 Aug;17:1405-14). This amino acid position is well conserved in available vertebrate species. 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. |