Submissions for variant NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)

gnomAD frequency: 0.00001  dbSNP: rs548677252

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125984	SCV000169470	benign	not specified	2014-04-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000726930	SCV000704234	uncertain significance	not provided	2017-08-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087731	SCV001007140	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798423	SCV002043122	likely benign	Cardiomyopathy	2020-03-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399498	SCV002669922	likely benign	Cardiovascular phenotype	2021-08-26	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726930	SCV004183802	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004734665	SCV005356976	likely benign	TTN-related disorder	2024-03-11	no assertion criteria provided	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).