ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)

gnomAD frequency: 0.00016  dbSNP: rs751559376
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250714 SCV000317989 likely benign Cardiovascular phenotype 2016-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000871076 SCV001012672 benign Dilated cardiomyopathy 1DD 2023-11-21 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823720 SCV002073420 likely benign not specified 2022-01-16 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (263443) NM_001134363.3 (RBM20): c.1455A>G (p.Ser485=) and has occurred in GnomAD with a total MAF of 0.0121% and highest MAF of 0.0864% in the Finnish population. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign.
Clinical Genetics, Academic Medical Center RCV001700024 SCV001924534 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700024 SCV001930661 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700024 SCV001971856 uncertain significance not provided no assertion criteria provided clinical testing

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