ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)

gnomAD frequency: 0.00019  dbSNP: rs397516625
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Total submissions: 6
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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 RCV000037005 SCV000060661 likely benign not specified 2024-02-27 criteria provided, single submitter clinical testing The p.Gly309Arg variant in RBM20 is classified as likely benign because it has been identified in 0.07% (36/51000) of Admixed American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.4.0.0). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
GeneDx RCV000037005 SCV000236328 uncertain significance not specified 2014-03-04 criteria provided, single submitter clinical testing p.Gly309Arg (GGG>AGG): c.925 G>A in exon 2 of the RBM20 gene (NM_001134363.1). The G309R variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G309R variant was not observed in approximately 2000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G309R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense mutations in nearby residues have not been reported in association with cardiomyopathy, indicating this region of the protein may tolerate change.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in DCM-CRDM panel(s).
Invitae RCV000647158 SCV000768945 likely benign Dilated cardiomyopathy 1DD 2023-10-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852422 SCV000995106 uncertain significance Cardiomyopathy 2019-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162321 SCV003855377 uncertain significance Cardiovascular phenotype 2021-01-26 criteria provided, single submitter clinical testing The c.925G>A (p.G309R) alteration is located in exon 2 (coding exon 2) of the RBM20 gene. This alteration results from a G to A substitution at nucleotide position 925, causing the glycine (G) at amino acid position 309 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786397 SCV000925208 uncertain significance not provided 2017-09-05 no assertion criteria provided provider interpretation

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