Submissions for variant NM_001267550.2(TTN):c.561G>A (p.Ser187=)

gnomAD frequency: 0.00007  dbSNP: rs141444282

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213117	SCV000271053	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ser187Ser in Exon 04 of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 2/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs141444282).
GeneDx	RCV001697218	SCV000732677	likely benign	not provided	2020-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV000643080	SCV000764767	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	RCV001170879	SCV001333501	benign	Cardiomyopathy	2018-01-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000213117	SCV001879667	benign	not specified	2021-02-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840357	SCV002101660	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840358	SCV002101661	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840359	SCV002101662	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840356	SCV002101663	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697218	SCV002585846	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Ambry Genetics	RCV002347834	SCV002649240	likely benign	Cardiovascular phenotype	2020-01-06	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.