ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)

gnomAD frequency: 0.00013  dbSNP: rs375355193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155811 SCV000205522 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing The Leu1002Val variant in RBM20 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/1384 African American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools favor a benign role. The affected amino acid is no t well conserved in evolution and 1 mammal (megabat) carries a valine (Val) at t his position, raising the possibility that this change may be tolerated. Additio nal information is needed to fully assess the clinical significance of the varia nt.
Labcorp Genetics (formerly Invitae), Labcorp RCV000647173 SCV000768961 likely benign Dilated cardiomyopathy 1DD 2024-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001567804 SCV001791555 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25351510)
Ambry Genetics RCV002433685 SCV002748848 uncertain significance Cardiovascular phenotype 2024-07-03 criteria provided, single submitter clinical testing The p.L1002V variant (also known as c.3004C>G), located in coding exon 11 of the RBM20 gene, results from a C to G substitution at nucleotide position 3004. The leucine at codon 1002 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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