Submissions for variant NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)

gnomAD frequency: 0.00016  dbSNP: rs369993514

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039944	SCV000063635	likely benign	not specified	2012-01-26	criteria provided, single submitter	clinical testing	Lys5680Lys in exon 68 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has also been identified in 1/668 4 European American chromosomes by the NHLBI Exome sequencing project in broad p opulation (http://evs.gs.washington.edu/EVS). Lys5680Lys in exon 68 of TTN (al lele frequency = 1/6684) **
GeneDx	RCV000039944	SCV000515101	benign	not specified	2015-06-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001088743	SCV000642786	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770085	SCV000901511	likely benign	Cardiomyopathy	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000551039	SCV001153055	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Genome-Nilou Lab	RCV001839536	SCV002099908	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839537	SCV002099909	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839538	SCV002099910	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839535	SCV002099912	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534865	SCV004760493	likely benign	TTN-related disorder	2020-09-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000551039	SCV001744497	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039944	SCV001920147	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000551039	SCV001966461	likely benign	not provided		no assertion criteria provided	clinical testing