Submissions for variant NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)

dbSNP: rs397517549

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040171	SCV000063862	likely benign	not specified	2014-09-24	criteria provided, single submitter	clinical testing	p.Glu10172del in exon 143 of TTN: This variant is a deletion of 1 amino acid at position 10172 in a string of glutamic acid residues and is not predicted to alt er the protein reading-frame. This deletion is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, 3 mammals (gorilla, alpaca, and camel) have a deletion at this position desp ite high nearby amino acid conservation.
Illumina Laboratory Services, Illumina	RCV000358341	SCV000423577	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265995	SCV000423578	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304720	SCV000423579	uncertain significance	Tibial muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361578	SCV000423580	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269293	SCV000423581	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326725	SCV000423582	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461729	SCV000555246	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000040171	SCV000566077	benign	not specified	2016-03-31	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170392	SCV001332969	benign	Cardiomyopathy	2018-07-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811293	SCV002049504	benign	not provided	2023-10-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040171	SCV003934170	likely benign	not specified	2023-05-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811293	SCV004152476	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: PM4:Supporting, BS1, BS2
Blueprint Genetics	RCV000157573	SCV000207319	uncertain significance	Primary familial hypertrophic cardiomyopathy	2014-02-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534894	SCV004725430	benign	TTN-related disorder	2019-03-27	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).