ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) (rs202011992)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000172455 SCV000051336 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040942 SCV000064633 likely benign not specified 2018-04-27 criteria provided, single submitter clinical testing The p.Asn3225Ser variant in TTN is classified as likely benign because it has be en identified 0.01% (11/126504) of European chromosomes by the Genome Aggregatio n Database (gnomAD,; dbSNP rs202011992). In add ition, this variant was identified by this laboratory in 2 individuals who carri ed other variants sufficient to explain their cardiomyopathy. One carried a like ly pathogenic variant in TTN and the other carried a likely pathogenic ATCT1 var iant. ACMG/AMP Criteria applied: BS1_Supporting; BP2; BP5.
Invitae RCV000544021 SCV000643965 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172455 SCV000701159 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000172455 SCV000730331 likely benign not provided 2020-10-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780, 31983221)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769101 SCV000900474 uncertain significance Cardiomyopathy 2016-05-20 criteria provided, single submitter 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.