Submissions for variant NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)

gnomAD frequency: 0.00002  dbSNP: rs565784637

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223610	SCV000271087	likely benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing	p.Leu2464Leu in exon 32 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/8570 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org).
Eurofins Ntd Llc (ga)	RCV000725301	SCV000335840	uncertain significance	not provided	2015-10-16	criteria provided, single submitter	clinical testing
Invitae	RCV001078577	SCV000555159	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000725301	SCV001792912	likely benign	not provided	2020-08-12	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798703	SCV002042994	likely benign	Cardiomyopathy	2020-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372223	SCV002671467	likely benign	Cardiovascular phenotype	2019-07-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.