Submissions for variant NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)

gnomAD frequency: 0.00009  dbSNP: rs183328495

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155841	SCV000205552	likely benign	not specified	2013-12-05	criteria provided, single submitter	clinical testing	Ser4390Ser in exon 45B of TTN: This variant (dbSNP rs183328495) is not expected to have clinical significance because it does not alter an amino acid residue an d is not located within the splice consensus sequence.
Eurofins Ntd Llc (ga)	RCV000727231	SCV000706792	uncertain significance	not provided	2018-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000727231	SCV000724646	likely benign	not provided	2020-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617889	SCV000736110	likely benign	Cardiovascular phenotype	2017-11-20	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770104	SCV000901530	uncertain significance	Cardiomyopathy	2016-06-17	criteria provided, single submitter	clinical testing
Invitae	RCV001086967	SCV001008947	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000727231	SCV001474413	likely benign	not provided	2020-08-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945241	SCV004759456	likely benign	TTN-related condition	2019-10-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).