Submissions for variant NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)

gnomAD frequency: 0.00079  dbSNP: rs372609980

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040251	SCV000063942	benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing	p.Gly12490Gly in exon 194 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (30/9712) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372609980).
GeneDx	RCV000040251	SCV000236646	benign	not specified	2014-09-15	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086495	SCV000555108	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000040251	SCV000700708	likely benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714035	SCV000844698	benign	not provided	2018-03-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000714035	SCV001472191	likely benign	not provided	2019-11-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839609	SCV002100686	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839610	SCV002100688	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839611	SCV002100689	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839608	SCV002100690	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040251	SCV002555945	likely benign	not specified	2022-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408528	SCV002717251	likely benign	Cardiovascular phenotype	2019-05-15	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486586	SCV004239912	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing