Submissions for variant NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)

gnomAD frequency: 0.00074  dbSNP: rs151335428

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118766	SCV000153303	benign	not specified	2013-12-04	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000118766	SCV000271040	likely benign	not specified	2015-04-07	criteria provided, single submitter	clinical testing	p.Gln16075Gln in exon 237 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 0.3% (29/9770) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs151335428).
Invitae	RCV001080747	SCV000555514	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000477604	SCV000616109	benign	not provided	2018-11-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118766	SCV000709116	likely benign	not specified	2017-06-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000477604	SCV000729350	likely benign	not provided	2020-07-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000477604	SCV002048641	likely benign	not provided	2021-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839909	SCV002100482	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839910	SCV002100483	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839911	SCV002100484	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839908	SCV002100485	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433612	SCV002745929	likely benign	Cardiovascular phenotype	2019-01-14	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000118766	SCV004038646	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542861	SCV004779714	likely benign	TTN-related disorder	2019-08-21	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).