Submissions for variant NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)

gnomAD frequency: 0.00010  dbSNP: rs368702156

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086151	SCV000286624	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000430067	SCV000515079	benign	not specified	2015-07-21	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.
Eurofins Ntd Llc (ga)	RCV000729511	SCV000857180	uncertain significance	not provided	2017-09-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798737	SCV002042479	likely benign	Cardiomyopathy	2020-07-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002347878	SCV002620726	benign	Cardiovascular phenotype	2020-04-06	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.