ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)

gnomAD frequency: 0.00006  dbSNP: rs369707906
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223093 SCV000237562 benign not specified 2016-08-24 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 RCV000223093 SCV000271081 likely benign not specified 2015-04-29 criteria provided, single submitter clinical testing p.Arg23073His in exon 275 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.64% (100/15620) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs369707906).
Invitae RCV001079555 SCV000286840 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000223093 SCV000335015 likely benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342317 SCV000421699 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395107 SCV000421700 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297719 SCV000421701 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338766 SCV000421702 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398493 SCV000421703 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312841 SCV000421704 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714096 SCV000844763 likely benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852810 SCV000995539 likely benign Sudden cardiac arrest 2019-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000223093 SCV002104068 likely benign not specified 2022-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336490 SCV002643982 likely benign Cardiovascular phenotype 2019-05-29 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150073 SCV003837972 benign Cardiomyopathy 2021-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714096 SCV004150276 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TTN: BS2
Clinical Genetics, Academic Medical Center RCV000223093 SCV001917353 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000714096 SCV001969212 likely benign not provided no assertion criteria provided clinical testing

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