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

gnomAD frequency: 0.00001  dbSNP: rs397517683

Total submissions: 11

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.
Invitae	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, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics Inc	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