Submissions for variant NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)

gnomAD frequency: 0.00317  dbSNP: rs72650032

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040147	SCV000063838	benign	not specified	2015-05-06	criteria provided, single submitter	clinical testing	p.Ala9671Pro in exon 130 of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (98/9782) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs72650032).
Eurofins Ntd Llc (ga)	RCV000040147	SCV000114373	benign	not specified	2016-12-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001573207	SCV000237088	likely benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251106	SCV000319194	benign	Cardiovascular phenotype	2013-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000459932	SCV000555429	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000040147	SCV000597658	likely benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040147	SCV000616060	benign	not specified	2017-05-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040147	SCV001821478	likely benign	not specified	2021-08-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839585	SCV002101770	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839586	SCV002101771	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839587	SCV002101772	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839584	SCV002101773	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573207	SCV004562058	benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534892	SCV004733818	benign	TTN-related disorder	2021-01-11	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573207	SCV001798710	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040147	SCV001926112	benign	not specified		no assertion criteria provided	clinical testing