Submissions for variant NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)

gnomAD frequency: 0.00054  dbSNP: rs200121902

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085352	SCV000555325	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000595403	SCV000708841	uncertain significance	not provided	2017-05-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000595403	SCV000970539	likely benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429571	SCV002728785	benign	Cardiovascular phenotype	2020-03-17	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.
Revvity Omics, Revvity	RCV000595403	SCV003822312	uncertain significance	not provided	2022-06-14	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV005404598	SCV006069246	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735548	SCV005343799	likely benign	TTN-related disorder	2024-06-20	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).