Submissions for variant NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)

gnomAD frequency: 0.00108  dbSNP: rs199560188

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041101	SCV000064792	likely benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing	Arg4091Lys in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (12/3118) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e vs.gs.washington.edu/EVS). Arg4091Lys in exon 45B of TTN (allele frequency = 0. 4%, 12/3118) **
GeneDx	RCV001703923	SCV000238181	likely benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247432	SCV000320092	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: 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.
Eurofins Ntd Llc (ga)	RCV000041101	SCV000333897	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000472841	SCV000555634	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000041101	SCV000615990	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703923	SCV002049383	likely benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839821	SCV002100814	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839822	SCV002100815	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839823	SCV002100816	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839820	SCV002100817	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537141	SCV004721057	likely benign	TTN-related disorder	2021-01-27	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	RCV000041101	SCV001978949	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001703923	SCV001979860	likely benign	not provided		no assertion criteria provided	clinical testing