Submissions for variant NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)

gnomAD frequency: 0.00081  dbSNP: rs202108224

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039938	SCV000063629	likely benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing	Ala5502Thr in exon 66 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (12/3120) of African American ch romosomes by the NHLBI Exome Sequencing Project in a broad population (http://ev s.gs.washington.edu/EVS). Ala5502Thr in exon 66 of TTN (allele frequency = 0.4% , 12/3120) **
Eurofins Ntd Llc (ga)	RCV000039938	SCV000114340	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000472656	SCV000555465	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000039938	SCV000616016	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001703896	SCV000719941	likely benign	not provided	2021-02-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839532	SCV002099917	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839533	SCV002099918	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839534	SCV002099919	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839531	SCV002099920	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914967	SCV004729418	likely benign	TTN-related condition	2021-01-27	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).
Clinical Genetics, Academic Medical Center	RCV000039938	SCV001979145	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001703896	SCV001979782	likely benign	not provided		no assertion criteria provided	clinical testing