ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)

gnomAD frequency: 0.00016  dbSNP: rs730880182
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183868 SCV000236350 uncertain significance not provided 2024-07-18 criteria provided, single submitter clinical testing Identified in patients with cardiomyopathy, including HCM, DCM, and ARVC, in published literature; several patients harbored additional cardiogenetic variants (PMID: 25351510, 37652022, 30847666); 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: 25351510, 37652022, 30847666)
Labcorp Genetics (formerly Invitae), Labcorp RCV000477856 SCV000768948 likely benign Dilated cardiomyopathy 1DD 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415685 SCV002720318 likely benign Cardiovascular phenotype 2021-12-21 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.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000477856 SCV002768225 uncertain significance Dilated cardiomyopathy 1DD 2022-02-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3C. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with dilated cardiomyopathy, 1DD (MIM#613172). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to serine. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v3) <0.001 for a dominant condition (22 heterozygotes, 0 homozygotes). (SP) 0504 - Same amino acid change has been observed in placental mammals. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been classified as a VUS in the literature and by multiple clinical diagnostic labs (PMID: 30847666; ClinVar). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics RCV000477856 SCV002814507 uncertain significance Dilated cardiomyopathy 1DD 2021-08-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000183868 SCV004225328 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing BP4
Blueprint Genetics RCV000157431 SCV000207175 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-03-03 no assertion criteria provided clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477856 SCV000536775 uncertain significance Dilated cardiomyopathy 1DD 2015-12-18 no assertion criteria provided research

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