Submissions for variant NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)

gnomAD frequency: 0.00046  dbSNP: rs186624523

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154999	SCV000204681	likely benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing	p.Glu3692Lys in exon 45B of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the chinchilla, bush-tailed rat, rabbit, and pika have a lysine (Lys) at t his position despite high nearby amino acid conservation. It has also been ident ified in 41/67642 European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs186624523).
GeneDx	RCV000713965	SCV000238168	likely benign	not provided	2021-06-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000713965	SCV000700978	uncertain significance	not provided	2018-05-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619410	SCV000736543	likely benign	Cardiovascular phenotype	2020-06-09	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.
Athena Diagnostics Inc	RCV000713965	SCV000844617	likely benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769092	SCV000900465	uncertain significance	Cardiomyopathy	2017-07-14	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001328736	SCV001519921	uncertain significance	Tibial muscular dystrophy	2019-08-08	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000713965	SCV004148156	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: BP1, BP4
Clinical Genetics, Academic Medical Center	RCV000713965	SCV001919966	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713965	SCV001964487	uncertain significance	not provided		no assertion criteria provided	clinical testing