ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)

gnomAD frequency: 0.00043  dbSNP: rs200204761
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172415 SCV000051269 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041112 SCV000064803 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing The Asn4419His variant in TTN has been identified by our laboratory in 3 individ uals with cardiomyopathy (1 with DCM and 2 with HCM). It has also been identifie d in 5/8238 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs200204761). Computational predictions are limited or unavailable for this variant. Additional information is needed t o fully assess the clinical significance of this variant.
GeneDx RCV000041112 SCV000238190 benign not specified 2016-09-02 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.
Invitae RCV001083873 SCV000555496 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852920 SCV000995662 benign Hypertrophic cardiomyopathy 2018-06-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170876 SCV001333498 benign Cardiomyopathy 2018-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381323 SCV002691545 benign Cardiovascular phenotype 2019-09-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
Clinical Genetics, Academic Medical Center RCV000041112 SCV001924980 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000041112 SCV001929681 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041112 SCV001956489 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041112 SCV001976317 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.