Submissions for variant NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)

gnomAD frequency: 0.00029  dbSNP: rs190021597

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118761	SCV000153285	benign	not specified	2013-12-04	criteria provided, single submitter	clinical testing
Invitae	RCV001086196	SCV000765130	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000643443	SCV001146421	benign	not provided	2018-11-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000643443	SCV001804043	likely benign	not provided	2020-03-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000643443	SCV002049435	likely benign	not provided	2021-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839901	SCV002100602	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839902	SCV002100603	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839903	SCV002100604	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839900	SCV002100605	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444572	SCV002733292	likely benign	Cardiovascular phenotype	2020-01-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004542859	SCV004782459	likely benign	TTN-related disorder	2019-08-21	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).