Submissions for variant NM_001267550.2(TTN):c.76854A>G (p.Val25618=)

gnomAD frequency: 0.00007  dbSNP: rs192902075

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000558414	SCV000643691	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	RCV000614147	SCV000711406	likely benign	not specified	2017-06-01	criteria provided, single submitter	clinical testing	p.Val23050Val 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 7/34164 Latino c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs192902075).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171264	SCV001333973	benign	Cardiomyopathy	2017-11-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840672	SCV002100172	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840673	SCV002100173	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840674	SCV002100174	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840671	SCV002100175	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341355	SCV002642135	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: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001796108	SCV004150277	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001796108	SCV002035048	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796108	SCV002037729	likely benign	not provided		no assertion criteria provided	clinical testing