Submissions for variant NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)

gnomAD frequency: 0.00018  dbSNP: rs376982715

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040061	SCV000063752	uncertain significance	not specified	2013-05-17	criteria provided, single submitter	clinical testing	The Asn7735His variant in TTN has been identified by our laboratory in 1 individ ual with DCM, who carried another likely pathogenic variant in TTN (LMM unpublis hed data), and has also been identified in 1/8330 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Comput ational analyses (biochemical amino acid properties, conservation, AlignGVGD, Po lyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clini cal significance of this variant.
Invitae	RCV000227647	SCV000286544	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-08-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725243	SCV000335244	uncertain significance	not provided	2017-05-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000725243	SCV000589380	likely benign	not provided	2020-04-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780, 29263846)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170860	SCV001333481	uncertain significance	Cardiomyopathy	2019-01-11	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000725243	SCV002541967	uncertain significance	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725243	SCV003827363	uncertain significance	not provided	2019-02-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725243	SCV004155239	uncertain significance	not provided	2023-06-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000725243	SCV001743137	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000725243	SCV001809677	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725243	SCV001924646	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000725243	SCV001956198	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725243	SCV001963881	uncertain significance	not provided		no assertion criteria provided	clinical testing