ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)

gnomAD frequency: 0.00001  dbSNP: rs1463526980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047320 SCV001211270 likely benign Dilated cardiomyopathy 1DD 2024-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445248 SCV002732132 uncertain significance Cardiovascular phenotype 2024-02-22 criteria provided, single submitter clinical testing The p.Y759C variant (also known as c.2276A>G), located in coding exon 9 of the RBM20 gene, results from an A to G substitution at nucleotide position 2276. The tyrosine at codon 759 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, cysteine 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 RCV001047320 SCV002794305 uncertain significance Dilated cardiomyopathy 1DD 2021-08-26 criteria provided, single submitter clinical testing

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