Submissions for variant NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)

gnomAD frequency: 0.00001  dbSNP: rs189187431

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220582	SCV000271092	likely benign	not specified	2015-06-23	criteria provided, single submitter	clinical testing	p.Ser2510Ser in exon 32 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (20/8580) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs189187431).
Invitae	RCV000532254	SCV000643669	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001596993	SCV001830318	likely benign	not provided	2020-03-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840365	SCV002101022	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840366	SCV002101023	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840367	SCV002101024	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840364	SCV002101025	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381739	SCV002673508	likely benign	Cardiovascular phenotype	2019-11-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000220582	SCV003934158	likely benign	not specified	2023-05-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000220582	SCV001921849	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001596993	SCV001926248	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001596993	SCV001958474	likely benign	not provided		no assertion criteria provided	clinical testing