Submissions for variant NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)

gnomAD frequency: 0.00209  dbSNP: rs138240658

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040358	SCV000064049	benign	not specified	2012-12-06	criteria provided, single submitter	clinical testing	Arg15502Arg in exon 230 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 1.0% (38/3784) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS/dbSNP rs138240658). Arg15502Arg in exon 230 of TTN (rs138240658; allele frequency= 1.0%, 38/3784) **
Invitae	RCV001085686	SCV000555129	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619713	SCV000736703	benign	Cardiovascular phenotype	2016-11-03	criteria provided, single submitter	clinical testing	This alteration is classified as 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)	RCV000040358	SCV000855285	benign	not specified	2018-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756853	SCV000884806	likely benign	not provided	2023-09-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770007	SCV000901433	benign	Cardiomyopathy	2016-04-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000756853	SCV001862898	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040358	SCV001879664	benign	not specified	2021-01-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839625	SCV002100508	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839626	SCV002100510	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839627	SCV002100511	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839624	SCV002100512	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040358	SCV003934168	benign	not specified	2023-05-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534909	SCV004753891	likely benign	TTN-related disorder	2019-03-29	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	RCV000040358	SCV001923990	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000756853	SCV001930154	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000756853	SCV001968191	likely benign	not provided		no assertion criteria provided	clinical testing