ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)

gnomAD frequency: 0.00004  dbSNP: rs886046699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357051 SCV000360333 uncertain significance Dilated cardiomyopathy 1DD 2018-01-13 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 RCV001571536 SCV001796035 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002446546 SCV002753605 uncertain significance Cardiovascular phenotype 2021-06-15 criteria provided, single submitter clinical testing The p.R102Q variant (also known as c.305G>A), located in coding exon 2 of the RBM20 gene, results from a G to A substitution at nucleotide position 305. The arginine at codon 102 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000357051 SCV003262367 likely benign Dilated cardiomyopathy 1DD 2023-08-28 criteria provided, single submitter clinical testing

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