Submissions for variant NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)

gnomAD frequency: 0.00007  dbSNP: rs371155050

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040351	SCV000064042	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ala15467Ala in exon 229 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 0.1% (4/6656) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS). Ala15467Ala in exon 229 of TTN ( allele frequency = 0.1%, 4/6656) **
Eurofins Ntd Llc (ga)	RCV000040351	SCV000331955	likely benign	not specified	2015-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000040351	SCV000515143	benign	not specified	2015-03-16	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	RCV000531662	SCV000643354	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040351	SCV001983688	likely benign	not specified	2021-09-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798160	SCV002042540	likely benign	Cardiomyopathy	2021-04-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839621	SCV002100513	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839622	SCV002100514	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839623	SCV002100515	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839620	SCV002100516	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453324	SCV002739908	likely benign	Cardiovascular phenotype	2018-03-01	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.
PreventionGenetics, part of Exact Sciences	RCV004541160	SCV004780379	likely benign	TTN-related disorder	2023-10-20	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).