Submissions for variant NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)

gnomAD frequency: 0.00045  dbSNP: rs144226338

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172443	SCV000055092	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152450	SCV000201544	benign	not specified	2020-09-22	criteria provided, single submitter	clinical testing	The p.Ile4327Val variant in TTN is classified as benign because it has been identified in 0.2% (68/30598) of South Asian chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1
Eurofins Ntd Llc (ga)	RCV000172443	SCV000702059	uncertain significance	not provided	2017-12-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000152450	SCV002034730	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172443	SCV002034984	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544377	SCV004773223	likely benign	TTN-related disorder	2023-05-17	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).