Submissions for variant NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)

gnomAD frequency: 0.00025  dbSNP: rs368984050

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222093	SCV000271118	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing	p.Tyr30895Tyr in exon 306 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 0.1% (10/9752) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227997	SCV000286381	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381740	SCV002668451	likely benign	Cardiovascular phenotype	2019-10-08	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.
Revvity Omics, Revvity	RCV003137808	SCV003826589	uncertain significance	not provided	2022-03-11	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150108	SCV003838509	likely benign	Cardiomyopathy	2021-09-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003137808	SCV004033793	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004541337	SCV004776218	likely benign	TTN-related disorder	2020-01-28	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).