Submissions for variant NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)

gnomAD frequency: 0.00006  dbSNP: rs199652273

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220148	SCV000271112	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Arg29234Arg in Exon 292 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/6642 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
GeneDx	RCV001697185	SCV000732678	likely benign	not provided	2020-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV000643608	SCV000765295	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170759	SCV001333365	benign	Cardiomyopathy	2018-01-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000220148	SCV001879723	benign	not specified	2021-02-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840369	SCV002102116	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840370	SCV002102118	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840371	SCV002102119	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840368	SCV002102120	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697185	SCV002585832	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	TTN: BP4
Ambry Genetics	RCV002363069	SCV002665228	benign	Cardiovascular phenotype	2020-08-14	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.