Submissions for variant NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)

gnomAD frequency: 0.00012  dbSNP: rs374882815

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154992	SCV000204674	uncertain significance	not specified	2013-08-30	criteria provided, single submitter	clinical testing	The Cys4696Arg variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8200 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Co mputational analyses (biochemical amino acid properties, conservation, AlignGVGD , PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical sign ificance of this variant.
Invitae	RCV000228841	SCV000286467	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247714	SCV000318452	uncertain significance	Cardiovascular phenotype	2013-03-06	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Eurofins Ntd Llc (ga)	RCV000713979	SCV000704299	uncertain significance	not provided	2016-12-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713979	SCV000844634	uncertain significance	not provided	2017-12-01	criteria provided, single submitter	clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	RCV001353378	SCV001548540	uncertain significance	Tip-toe gait	2021-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000713979	SCV002504308	likely benign	not provided	2020-01-22	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Revvity Omics, Revvity	RCV000713979	SCV003818369	uncertain significance	not provided	2020-03-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000713979	SCV001921947	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000713979	SCV001963401	uncertain significance	not provided		no assertion criteria provided	clinical testing