Submissions for variant NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)

gnomAD frequency: 0.00107  dbSNP: rs199652066

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041098	SCV000064789	likely benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing	Asn4007His in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (12/3202) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e vs.gs.washington.edu/EVS). Asn4007His in exon 45B of TTN (allele frequency = 0. 4%, 12/3202) **
GeneDx	RCV001703922	SCV000238179	likely benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251992	SCV000320093	likely benign	Cardiovascular phenotype	2018-08-14	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.
Eurofins Ntd Llc (ga)	RCV000041098	SCV000333892	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000467519	SCV000555533	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000041098	SCV000615988	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703922	SCV002047754	likely benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839809	SCV002100832	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839810	SCV002100833	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839811	SCV002100834	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839808	SCV002100835	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914996	SCV004731455	likely benign	TTN-related condition	2021-01-27	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).
Clinical Genetics, Academic Medical Center	RCV000041098	SCV001978898	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001703922	SCV001979830	likely benign	not provided		no assertion criteria provided	clinical testing