Submissions for variant NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)

gnomAD frequency: 0.00258  dbSNP: rs72648913

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172706	SCV000051498	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041064	SCV000064755	likely benign	not specified	2012-02-10	criteria provided, single submitter	clinical testing	p.Cys5387Tyr in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (28/7016) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS; dbSNP rs72648913).
GeneDx	RCV000172706	SCV000238153	likely benign	not provided	2021-02-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041064	SCV000337468	likely benign	not specified	2015-11-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172706	SCV001153115	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
Genetics and Genomics Program, Sidra Medicine	RCV001293138	SCV001434128	likely benign	Hypertrophic cardiomyopathy		criteria provided, single submitter	research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172706	SCV001472362	likely benign	not provided	2021-08-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172706	SCV001740725	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041064	SCV001924632	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172706	SCV001932130	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172706	SCV001951501	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172706	SCV001974190	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172706	SCV002035737	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537135	SCV004737162	likely benign	TTN-related disorder	2019-08-13	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).