ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)

gnomAD frequency: 0.00001  dbSNP: rs777080028
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647157 SCV000768944 likely benign Dilated cardiomyopathy 1DD 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000647157 SCV001265743 uncertain significance Dilated cardiomyopathy 1DD 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001836856 SCV002097506 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing Reported with additional cardiogenetic variants in both affected and unaffected family members in a Chinese family with dilated cardiomyopathy (Zhang et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30276801)
Ambry Genetics RCV002458108 SCV002615460 uncertain significance Cardiovascular phenotype 2023-05-01 criteria provided, single submitter clinical testing The p.R380Q variant (also known as c.1139G>A), located in coding exon 2 of the RBM20 gene, results from a G to A substitution at nucleotide position 1139. The arginine at codon 380 is replaced by glutamine, an amino acid with highly similar properties. This alteration was reported in a family with dilated cardiomyopathy (DCM), who also had variants in other cardiac-related genes (Zhang SB et al. Ann Hum Genet, 2019 03;83:95-99). This amino acid position is not well conserved in available vertebrate species, and glutamine 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.
Breakthrough Genomics, Breakthrough Genomics RCV001836856 SCV005191026 uncertain significance not provided criteria provided, single submitter not provided

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