ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2264G>A (p.Arg755His)

gnomAD frequency: 0.00008  dbSNP: rs986602724
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Total submissions: 2
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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.

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