Submissions for variant NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)

gnomAD frequency: 0.00218  dbSNP: rs114711705

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040398	SCV000064089	likely benign	not specified	2012-04-11	criteria provided, single submitter	clinical testing	Arg16660His in exon 244 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (19/3144) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs114711705) Arg16660His in exon 244 of T TN (rs114711705; allele frequency = 0.6% 19/3144) **
Eurofins Ntd Llc (ga)	RCV000040398	SCV000203703	benign	not specified	2016-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000040398	SCV000237337	benign	not specified	2015-10-29	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.
Invitae	RCV001083744	SCV000555234	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620713	SCV000736535	benign	Cardiovascular phenotype	2016-01-21	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.
Athena Diagnostics	RCV000458036	SCV001146443	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000458036	SCV001473990	likely benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839637	SCV002100442	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839638	SCV002100444	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839639	SCV002100445	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839636	SCV002100446	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040398	SCV002547657	likely benign	not specified	2022-05-07	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486590	SCV004239964	benign	Cardiomyopathy	2022-12-12	criteria provided, single submitter	clinical testing