ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)

gnomAD frequency: 0.00012  dbSNP: rs727505310
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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 RCV000156848 SCV000206569 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing The p.Thr653Ile variant in RBM20 has been identified by our laboratory in 1 Cauc asian individual with HCM, and has also been identified in 3/6614 European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ). Computational prediction tools and conservation analysis suggest that the p.T hr653Ile variant may impact the protein, though this information is not predicti ve enough to determine pathogenicity. In summary, the clinical significance of t he p.Thr653Ile variant is uncertain.
GeneDx RCV000766690 SCV000236349 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing Reported in an individual with DCM and an individual with HCM, however, additional patient-specific data were not described (Gigli et al., 2019; van Lint et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30847666, 31514951, 32917565, 34823266, 35893073, HolmstromL2022[Preprint])
Labcorp Genetics (formerly Invitae), Labcorp RCV001081755 SCV000824919 likely benign Dilated cardiomyopathy 1DD 2024-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415682 SCV002722083 likely benign Cardiovascular phenotype 2023-05-16 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.
Revvity Omics, Revvity RCV001081755 SCV003813789 uncertain significance Dilated cardiomyopathy 1DD 2022-06-09 criteria provided, single submitter clinical testing

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