ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)

gnomAD frequency: 0.00233  dbSNP: rs537723089
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000156392 SCV000171319 benign not specified 2013-03-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156392 SCV000206110 benign not specified 2015-07-22 criteria provided, single submitter clinical testing p.Pro662Pro in exon 9 of RBM20: This variant is not expected to have clinical si gnificance because it has been identified in 2.9% (22/770) of Finnish chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org.; db SNP rs537723089).
Labcorp Genetics (formerly Invitae), Labcorp RCV000232829 SCV000286188 benign Dilated cardiomyopathy 1DD 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253168 SCV000318837 benign Cardiovascular phenotype 2016-08-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000232829 SCV000360359 uncertain significance Dilated cardiomyopathy 1DD 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769267 SCV000900643 likely benign Cardiomyopathy 2016-07-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156392 SCV001554565 benign not specified 2021-03-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000232829 SCV004563149 benign Dilated cardiomyopathy 1DD 2023-11-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000232829 SCV000732919 likely benign Dilated cardiomyopathy 1DD no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000156392 SCV001925372 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000857911 SCV001931359 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000857911 SCV001957110 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000156392 SCV001975656 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935204 SCV004752620 benign RBM20-related disorder 2019-11-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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