Submissions for variant NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln)

dbSNP: rs547986881

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000291618	SCV000335642	likely benign	not specified	2015-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620979	SCV000736515	likely benign	Cardiovascular phenotype	2016-02-25	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.
Invitae	RCV000866023	SCV001007062	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000291618	SCV001365476	benign	not specified	2019-12-23	criteria provided, single submitter	clinical testing	The p.Glu14763Gln variant in TTN is classified as benign because it has been identified in 0.5% (162/29828) of South Asian chromosomes and 5 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx	RCV001712001	SCV001940463	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840473	SCV002100562	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840474	SCV002100563	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840475	SCV002100564	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840472	SCV002100566	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977756	SCV004794980	likely benign	TTN-related condition	2022-03-02	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).