Submissions for variant NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)

gnomAD frequency: 0.00046  dbSNP: rs192953152

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118759	SCV000153280	benign	not specified	2013-12-04	criteria provided, single submitter	clinical testing
Invitae	RCV001088433	SCV000555067	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118759	SCV000709118	likely benign	not specified	2017-06-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000835844	SCV000977666	benign	not provided	2018-03-20	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	RCV000835844	SCV001146415	benign	not provided	2018-11-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000835844	SCV002048593	likely benign	not provided	2021-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839897	SCV002100634	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839898	SCV002100635	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839899	SCV002100636	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839896	SCV002100637	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415606	SCV002725720	likely benign	Cardiovascular phenotype	2019-01-14	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000118759	SCV004038669	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542858	SCV004776691	likely benign	TTN-related disorder	2019-08-21	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).