Submissions for variant NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)

gnomAD frequency: 0.00034  dbSNP: rs187366691

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154065	SCV000203706	likely benign	not specified	2016-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001704119	SCV000527183	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Invitae	RCV000535211	SCV000643383	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154065	SCV000967324	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Pro15915Pro in Exon 236 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/3080 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS;).
Athena Diagnostics Inc	RCV000154065	SCV001475783	benign	not specified	2020-07-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154065	SCV001737632	benign	not specified	2021-05-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704119	SCV002048296	benign	not provided	2023-09-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840124	SCV002100491	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840125	SCV002100492	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840126	SCV002100493	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840123	SCV002100494	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433670	SCV002752235	likely benign	Cardiovascular phenotype	2020-01-07	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.