Submissions for variant NM_001267550.2(TTN):c.1398+5G>A

gnomAD frequency: 0.00003  dbSNP: rs542965530

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152528	SCV000201719	uncertain significance	not specified	2014-04-02	criteria provided, single submitter	clinical testing	The 1398+5G>A variant in TTN has been identified by our laboratory in 1 individu al with DCM whom also carried another variant sufficient to explain their diseas e. It was absent from large population studies. This variant is located in the 5 ' splice region. Computational tools do not suggest an impact to splicing. Howev er, this information is not predictive enough to rule out pathogenicity. Additio nal information is needed to fully assess the clinical significance of this vari ant.
Eurofins Ntd Llc (ga)	RCV000725264	SCV000335470	uncertain significance	not provided	2015-10-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000152528	SCV000518242	likely benign	not specified	2017-08-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087826	SCV000642682	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798489	SCV002042373	benign	Cardiomyopathy	2021-05-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390331	SCV002701708	benign	Cardiovascular phenotype	2021-03-16	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.
Clinical Genetics, Academic Medical Center	RCV000152528	SCV001916978	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725264	SCV001967218	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000725264	SCV001979578	likely benign	not provided		no assertion criteria provided	clinical testing