Submissions for variant NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)

gnomAD frequency: 0.00010  dbSNP: rs369544339

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039912	SCV000063603	uncertain significance	not specified	2015-02-20	criteria provided, single submitter	clinical testing	The p.Glu4977Asp variant in TTN has been previously identified by our laboratory in 1 Caucasian child with DCM and 1 Caucasian adult with ARVC. This variant has also been identified in 11/67530 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369544339). Computatio nal prediction tools and conservation analysis suggest the p.Glu4977Asp variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Glu4977As p variant is uncertain.
GeneDx	RCV000725041	SCV000238256	likely benign	not provided	2019-07-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Eurofins Ntd Llc (ga)	RCV000725041	SCV000333463	uncertain significance	not provided	2015-07-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000039912	SCV000616012	likely benign	not specified	2019-09-27	criteria provided, single submitter	clinical testing
Invitae	RCV000545466	SCV000642757	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725041	SCV001153066	uncertain significance	not provided	2019-03-01	criteria provided, single submitter	clinical testing