Submissions for variant NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)

gnomAD frequency: 0.00001  dbSNP: rs545806408

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155966	SCV000205678	likely benign	not specified	2014-12-17	criteria provided, single submitter	clinical testing	p.Ala11369Val in exon 176 of TTN: This variant is not expected to have clinical significance it has been identified in 0.41% (49/11954) of South Asian chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
GeneDx	RCV000155966	SCV000725806	likely benign	not specified	2017-12-13	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.
Invitae	RCV000642849	SCV000764536	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171016	SCV001333685	benign	Cardiomyopathy	2018-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840176	SCV002101183	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840177	SCV002101184	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840178	SCV002101185	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840175	SCV002101186	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390362	SCV002701954	benign	Cardiovascular phenotype	2020-09-16	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics	RCV002498761	SCV002812568	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2022-02-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535004	SCV004716485	likely benign	TTN-related disorder	2022-12-28	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).