Submissions for variant NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)

gnomAD frequency: 0.00159  dbSNP: rs201200682

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041113	SCV000064804	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Thr4430Thr in exon 45B 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 wit hin the splice consensus sequence. It has been identified in 0.3% (8/3128) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Thr4430Thr in exon 45B of TTN (all ele frequency = 0.3%, 8/3128) **
GeneDx	RCV000041113	SCV000236731	benign	not specified	2014-06-26	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	RCV000205782	SCV000262240	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041113	SCV000337921	likely benign	not specified	2016-06-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617981	SCV000737089	likely benign	Cardiovascular phenotype	2016-06-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769090	SCV000900463	benign	Cardiomyopathy	2016-09-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839857	SCV002100760	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839858	SCV002100761	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839859	SCV002100762	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839856	SCV002100764	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727547	SCV004148145	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001727547	SCV005260114	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000041113	SCV001917184	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041113	SCV001954544	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727547	SCV001974199	likely benign	not provided		no assertion criteria provided	clinical testing