Submissions for variant NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)

gnomAD frequency: 0.00014  dbSNP: rs374902148

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155824	SCV000205535	likely benign	not specified	2013-12-17	criteria provided, single submitter	clinical testing	Glu26469Glu in exon 276 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 1/8188 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs374902148). Glu26469Glu in exon 276 of TTN (rs374902148; allele frequency = 1/8188) **
GeneDx	RCV000155824	SCV000236688	benign	not specified	2014-12-02	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)	RCV000155824	SCV000855324	likely benign	not specified	2018-05-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768875	SCV000900248	uncertain significance	Cardiomyopathy	2016-06-16	criteria provided, single submitter	clinical testing
Invitae	RCV000862693	SCV001003234	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002262759	SCV002544137	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Ambry Genetics	RCV002354377	SCV002658768	likely benign	Cardiovascular phenotype	2020-03-20	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.