Submissions for variant NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)

gnomAD frequency: 0.00007  dbSNP: rs571348685

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152357	SCV000201276	uncertain significance	not specified	2014-07-01	criteria provided, single submitter	clinical testing	The Arg10933His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Arg10933His vari ant is uncertain.
Eurofins Ntd Llc (ga)	RCV000725706	SCV000338757	uncertain significance	not provided	2016-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089127	SCV001004242	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000725706	SCV001782422	likely benign	not provided	2019-06-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381479	SCV002692295	likely benign	Cardiovascular phenotype	2020-03-28	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.
Revvity Omics, Revvity	RCV000725706	SCV004237458	uncertain significance	not provided	2023-08-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734713	SCV005344940	likely benign	TTN-related disorder	2024-06-06	no assertion criteria provided	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).