ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)

gnomAD frequency: 0.00006  dbSNP: rs371828469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231627 SCV000286202 benign Dilated cardiomyopathy 1DD 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000520466 SCV000617940 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002321863 SCV002610870 uncertain significance Cardiovascular phenotype 2022-10-05 criteria provided, single submitter clinical testing The p.I1090F variant (also known as c.3268A>T), located in coding exon 11 of the RBM20 gene, results from an A to T substitution at nucleotide position 3268. The isoleucine at codon 1090 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Fulgent Genetics, Fulgent Genetics RCV000231627 SCV002786920 uncertain significance Dilated cardiomyopathy 1DD 2021-07-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000231627 SCV003813788 uncertain significance Dilated cardiomyopathy 1DD 2021-06-11 criteria provided, single submitter clinical testing

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