ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)

gnomAD frequency: 0.00005  dbSNP: rs201047984
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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 RCV000155649 SCV000205358 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing p.Gly365Arg in exon 2 of RBM20: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (119/22735) of South Asian chr omosomes, including 2 homozygotes, by the Genome Aggregation Database (gnomAD, h ttp://gnomad.broadinstitute.org/; dbSNP rs201047984).
GeneDx RCV000766685 SCV000236330 uncertain significance not provided 2012-11-30 criteria provided, single submitter clinical testing Gly365Arg (GGG>AGG):c.1093 G>A in exon 2 of the RBM20 gene (NM_001134363.1). The Gly365Arg variant in the RBM20 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gly365Arg results in a non-conservative amino acid substitution of a non-polar Glycine with a positively-charged Arginine at a position that is conserved across species. In silico analysis predicts Gly365Arg is probably damaging to the protein structure/function. Gly365Arg was absent from the 1000 Genomes database, and the NHLBI ESP Exome Variant Server reports Gly365Arg was not observed in approximately 2000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, data from ethnically-matched control individuals were not available to assess for a population-specific benign variant. In addition, there are no mutations reported near Gly365Arg indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Gly365Arg is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).
Invitae RCV001086529 SCV000562772 benign Dilated cardiomyopathy 1DD 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617510 SCV000735769 likely benign Cardiovascular phenotype 2019-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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