Submissions for variant NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)

gnomAD frequency: 0.00007  dbSNP: rs181702963

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516726	SCV000616132	benign	not specified	2016-12-31	criteria provided, single submitter	clinical testing
Invitae	RCV000554892	SCV000643605	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000516726	SCV000711407	likely benign	not specified	2017-06-01	criteria provided, single submitter	clinical testing	p.Gly20934Gly in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 7/34402 Latino c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs181702963).
Genome-Nilou Lab	RCV001840626	SCV002100287	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840627	SCV002100288	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840628	SCV002100289	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840625	SCV002100292	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329227	SCV002630939	likely benign	Cardiovascular phenotype	2019-07-30	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150253	SCV003838564	likely benign	Cardiomyopathy	2021-09-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437238	SCV004150301	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7