ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys)

gnomAD frequency: 0.00005  dbSNP: rs770328474
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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 RCV001323173 SCV001514077 benign Dilated cardiomyopathy 1DD 2024-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322243 SCV002610769 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.E1073K variant (also known as c.3217G>A), located in coding exon 11 of the RBM20 gene, results from a G to A substitution at nucleotide position 3217. The glutamic acid at codon 1073 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, lysine is the reference amino acid in other 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 RCV001323173 SCV002791911 uncertain significance Dilated cardiomyopathy 1DD 2021-10-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692499 SCV005191031 uncertain significance not provided criteria provided, single submitter not provided

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