ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val)

gnomAD frequency: 0.00001  dbSNP: rs397516618
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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 RCV000036990 SCV000060646 uncertain significance not specified 2012-07-06 criteria provided, single submitter clinical testing The Ala1208Val variant in RBM20 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV001719738 SCV000516558 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000036990 SCV000740663 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing
Invitae RCV000803243 SCV000943105 likely benign Dilated cardiomyopathy 1DD 2023-10-16 criteria provided, single submitter clinical testing

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