ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)

gnomAD frequency: 0.00001  dbSNP: rs397517683
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040553 SCV000064244 uncertain significance not specified 2012-01-19 criteria provided, single submitter clinical testing The Thr20826Met variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD and SIFT) do not provide strong support fo r or against pathogenicity. Additional information is needed to fully assess the clinical significance of the Thr20826Met variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000456238 SCV000543095 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997408 SCV001152780 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000997408 SCV001714044 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798177 SCV002042622 uncertain significance Cardiomyopathy 2020-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326750 SCV002631074 uncertain significance Cardiovascular phenotype 2020-08-21 criteria provided, single submitter clinical testing The p.T14329M variant (also known as c.42986C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 42986. The threonine at codon 14329 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV000997408 SCV002770594 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477123 SCV002784590 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000997408 SCV003822239 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000997408 SCV001743522 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000997408 SCV001969852 uncertain significance not provided 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.