Submissions for variant NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)

gnomAD frequency: 0.00002  dbSNP: rs397517553

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040188	SCV000063879	likely benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing	p.Pro10595Thr in exon 156 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (101/16512) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs397517553).
Eurofins Ntd Llc (ga)	RCV000040188	SCV000226382	likely benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000040188	SCV000236756	benign	not specified	2018-01-08	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	RCV000465574	SCV000555570	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170386	SCV001332963	benign	Cardiomyopathy	2017-12-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839597	SCV002101244	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839598	SCV002101245	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839599	SCV002101246	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839596	SCV002101248	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504909	SCV002800356	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	2021-08-13	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003137564	SCV003823616	uncertain significance	not provided	2023-09-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003944939	SCV004764028	likely benign	TTN-related condition	2023-04-25	criteria provided, single submitter	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).