ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly)

dbSNP: rs199830512
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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 RCV001304788 SCV001494087 benign Dilated cardiomyopathy 1DD 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322206 SCV002610031 uncertain significance Cardiovascular phenotype 2024-09-25 criteria provided, single submitter clinical testing The p.R1057G variant (also known as c.3169C>G), located in coding exon 11 of the RBM20 gene, results from a C to G substitution at nucleotide position 3169. The arginine at codon 1057 is replaced by glycine, an amino acid with dissimilar 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 RCV001304788 SCV002776520 uncertain significance Dilated cardiomyopathy 1DD 2021-11-05 criteria provided, single submitter clinical testing
GeneDx RCV005094370 SCV005848565 uncertain significance not provided 2024-08-13 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 indicates that this missense variant does not alter protein structure/function

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