Submissions for variant NM_133379.5(TTN):c.16020T>C (p.His5340=)

gnomAD frequency: 0.00021  dbSNP: rs200378944

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041062	SCV000064753	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	His5340His in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, and is not located wi thin the splice consensus sequence. It has been identified in 1/7018 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;). His5340His in exon 45A of TTN (allele fre quency= 1/7018) **
Eurofins Ntd Llc (ga)	RCV000730470	SCV000858206	uncertain significance	not provided	2017-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000730470	SCV001940438	likely benign	not provided	2021-04-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000730470	SCV004148161	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	TTN: BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000730470	SCV001742041	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041062	SCV001922033	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000730470	SCV001959383	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000730470	SCV001975878	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541202	SCV004788262	likely benign	TTN-related disorder	2019-02-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).