Submissions for variant NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)

gnomAD frequency: 0.00025  dbSNP: rs148434577

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040482	SCV000064173	likely benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing	p.Ile1899Ile in exon 28 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. This variant has been identified in 30/66738 European chromosomes, including 1 homozygote by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs148434577).
Eurofins Ntd Llc (ga)	RCV000040482	SCV000342225	likely benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000040482	SCV000518167	benign	not specified	2015-10-28	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.
Genetic Services Laboratory, University of Chicago	RCV000040482	SCV000597677	likely benign	not specified	2016-10-11	criteria provided, single submitter	clinical testing
Invitae	RCV001079984	SCV000643406	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617774	SCV000736951	likely benign	Cardiovascular phenotype	2017-11-14	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.
CeGaT Center for Human Genetics Tuebingen	RCV000537033	SCV001153183	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170111	SCV001332650	benign	Cardiomyopathy	2018-03-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839669	SCV002101470	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839670	SCV002101471	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839671	SCV002101472	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839668	SCV002101473	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000537033	SCV001744095	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040482	SCV001918641	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000040482	SCV001958118	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000537033	SCV001970787	likely benign	not provided		no assertion criteria provided	clinical testing