Submissions for variant NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)

gnomAD frequency: 0.00026  dbSNP: rs72648208

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040653	SCV000064344	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Gln24079Gln in exon 275 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 0.3% (1/368) of ch romosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/p rojects/SNP; dbSNP rs72648208). Gln24079Gln in exon 275 of TTN (rs72648208; all ele frequency = 0.3%, 1/368) **
Invitae	RCV000229560	SCV000286848	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000040653	SCV000515595	benign	not specified	2016-11-07	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.
Athena Diagnostics	RCV000040653	SCV001879705	benign	not specified	2021-01-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839701	SCV002100106	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839702	SCV002100107	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839703	SCV002100108	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839700	SCV002100109	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345313	SCV002646561	likely benign	Cardiovascular phenotype	2019-04-09	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.
CeGaT Center for Human Genetics Tuebingen	RCV001723624	SCV003916179	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040653	SCV003928672	likely benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534932	SCV004732299	likely benign	TTN-related disorder	2019-03-13	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	RCV000040653	SCV001922172	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723624	SCV001957961	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723624	SCV001967019	likely benign	not provided		no assertion criteria provided	clinical testing