Submissions for variant NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)

gnomAD frequency: 0.00332  dbSNP: rs143253411

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000041011	SCV000051503	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041011	SCV000064702	benign	not specified	2015-03-20	criteria provided, single submitter	clinical testing	p.Gly4023Arg in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1% (106/10394) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs143253411).
GeneDx	RCV000041011	SCV000169552	benign	not specified	2014-05-12	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.
Invitae	RCV000549216	SCV000642633	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001171816	SCV001334682	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TTN: PP3, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001171816	SCV002050096	likely benign	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490574	SCV002797352	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2022-04-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537129	SCV004732463	benign	TTN-related disorder	2021-09-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041011	SCV001741058	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001171816	SCV001797442	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041011	SCV001925665	benign	not specified		no assertion criteria provided	clinical testing