ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)

gnomAD frequency: 0.00570  dbSNP: rs33971253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 22
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 RCV000041083 SCV000051695 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041083 SCV000064774 benign not specified 2012-02-23 criteria provided, single submitter clinical testing Pro3752Leu in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence and has been identified in 1.1% (73/6658) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS; dbSNP rs33971253). Pro3752Leu in exon 45B of TTN (rs33971253; allele frequ ency = 1.1%, 73/6658) **
GeneDx RCV000041083 SCV000169572 benign not specified 2013-08-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083374 SCV000262072 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041083 SCV000307151 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000619761 SCV000735089 benign Cardiovascular phenotype 2015-11-19 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769091 SCV000900464 benign Cardiomyopathy 2015-12-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852923 SCV000995667 benign Hypertrophic cardiomyopathy; Supraventricular tachycardia 2019-03-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000206781 SCV001146315 benign not provided 2019-07-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000206781 SCV001159544 benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839785 SCV002100867 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839786 SCV002100868 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839787 SCV002100869 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839784 SCV002100870 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000206781 SCV002544178 benign not provided 2024-08-01 criteria provided, single submitter clinical testing TTN: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000206781 SCV005241351 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000206781 SCV001741456 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000206781 SCV001800404 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041083 SCV001917425 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000041083 SCV001929109 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041083 SCV001957584 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041083 SCV001969843 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.