Submissions for variant NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)

gnomAD frequency: 0.00133  dbSNP: rs200431386

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041104	SCV000064795	likely benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing	Arg4163Gln in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (15/3002) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e vs.gs.washington.edu/EVS). Arg4163Gln in exon 45B of TTN (allele frequency = 0. 5%, 15/3002) **
GeneDx	RCV001719779	SCV000238182	likely benign	not provided	2021-04-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25363768)
Ambry Genetics	RCV000246916	SCV000320095	likely benign	Cardiovascular phenotype	2018-08-14	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)	RCV000041104	SCV000333898	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000469656	SCV000555648	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000041104	SCV000615992	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719779	SCV002049662	likely benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839829	SCV002100800	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839830	SCV002100801	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839831	SCV002100802	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839828	SCV002100803	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003904983	SCV004721716	likely benign	TTN-related condition	2020-01-27	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).
Clinical Genetics, Academic Medical Center	RCV000041104	SCV001979013	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001719779	SCV001979839	likely benign	not provided		no assertion criteria provided	clinical testing