Submissions for variant NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)

gnomAD frequency: 0.00079  dbSNP: rs190406444

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040749	SCV000064440	benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing	p.Thr26924Thr in exon 280 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (30/9788) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs190406444).
GeneDx	RCV000040749	SCV000236689	benign	not specified	2014-09-15	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	RCV001086496	SCV000555098	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000040749	SCV000700707	likely benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000714110	SCV000844783	benign	not provided	2018-03-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000714110	SCV001474633	likely benign	not provided	2019-11-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839717	SCV002102254	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839718	SCV002102255	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839719	SCV002102256	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839716	SCV002102257	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040749	SCV002555942	likely benign	not specified	2022-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354218	SCV002661298	likely benign	Cardiovascular phenotype	2019-05-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486603	SCV004240153	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing