ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)

gnomAD frequency: 0.00011  dbSNP: rs183770014
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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 RCV000647171 SCV000768959 benign Dilated cardiomyopathy 1DD 2023-12-13 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256894 SCV001433392 uncertain significance Dilated cardiomyopathy 1A 2019-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449058 SCV002754087 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.T1015I variant (also known as c.3044C>T), located in coding exon 11 of the RBM20 gene, results from a C to T substitution at nucleotide position 3044. The threonine at codon 1015 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV000647171 SCV002784063 uncertain significance Dilated cardiomyopathy 1DD 2021-08-31 criteria provided, single submitter clinical testing
GeneDx RCV003126891 SCV003803454 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26582918)

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