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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000803243 SCV000943105 likely benign Dilated cardiomyopathy 1DD 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004668753 SCV005160743 likely benign Cardiovascular phenotype 2024-04-11 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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