Submissions for variant NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)

gnomAD frequency: 0.00025  dbSNP: rs528832388

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000184096	SCV000236637	benign	not specified	2014-07-30	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000184096	SCV000271016	likely benign	not specified	2015-10-01	criteria provided, single submitter	clinical testing	p.Ala10796Ala in exon 163 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (13/5342) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs528832388).
PreventionGenetics, part of Exact Sciences	RCV000184096	SCV000315480	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000475851	SCV000555228	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000184096	SCV000705890	likely benign	not specified	2017-01-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770052	SCV000901478	benign	Cardiomyopathy	2018-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840255	SCV002101222	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840256	SCV002101223	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840257	SCV002101224	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840254	SCV002101226	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000184096	SCV004038685	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000184096	SCV001917243	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723757	SCV001954615	likely benign	not provided		no assertion criteria provided	clinical testing