ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn)

gnomAD frequency: 0.00001  dbSNP: rs957430941
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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 RCV000647160 SCV000768947 benign Dilated cardiomyopathy 1DD 2024-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422357 SCV002730379 uncertain significance Cardiovascular phenotype 2022-05-03 criteria provided, single submitter clinical testing The p.K700N variant (also known as c.2100G>C), located in coding exon 9 of the RBM20 gene, results from a G to C substitution at nucleotide position 2100. The lysine at codon 700 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly 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 RCV000647160 SCV002775676 uncertain significance Dilated cardiomyopathy 1DD 2021-09-14 criteria provided, single submitter clinical testing

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