Submissions for variant NM_133379.5(TTN):c.13614A>C (p.Gln4538His)

gnomAD frequency: 0.00019  dbSNP: rs139344272

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152447	SCV000201532	likely benign	not specified	2015-10-01	criteria provided, single submitter	clinical testing	p.Gln4538His in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (64/8552) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs139344272).
Eurofins Ntd Llc (ga)	RCV000152447	SCV000855308	benign	not specified	2017-07-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000185259	SCV001501781	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV002498713	SCV002798460	likely benign	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	2021-08-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000185259	SCV000238121	not provided	not provided	2014-07-22	no assertion provided	clinical testing	Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY,DCM-CRDM panel(s).
Clinical Genetics, Academic Medical Center	RCV000152447	SCV002034493	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000185259	SCV002035525	likely benign	not provided		no assertion criteria provided	clinical testing