Submissions for variant NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)

gnomAD frequency: 0.00108  dbSNP: rs370604524

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041106	SCV000064797	benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000041106	SCV000236729	benign	not specified	2014-07-08	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.
Ambry Genetics	RCV000251881	SCV000320096	likely benign	Cardiovascular phenotype	2015-09-17	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.
Eurofins Ntd Llc (ga)	RCV000041106	SCV000333889	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000460877	SCV000554994	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000041106	SCV000615993	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811304	SCV002048676	benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839837	SCV002100791	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839838	SCV002100792	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839839	SCV002100793	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839836	SCV002100794	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811304	SCV004148148	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7