Submissions for variant NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)

gnomAD frequency: 0.00125  dbSNP: rs115119858

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040130	SCV000063821	likely benign	not specified	2012-04-18	criteria provided, single submitter	clinical testing	Thr9485Met in exon 123 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (11/3076) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs115119858). Thr9485Met in exon 123 of TTN ( rs115119858; allele frequency = 0.4%, 11/3076) **
GeneDx	RCV000040130	SCV000237078	likely benign	not specified	2017-10-23	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.
Ambry Genetics	RCV000241648	SCV000318654	uncertain significance	Cardiovascular phenotype	2013-05-20	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Eurofins Ntd Llc (ga)	RCV000040130	SCV000333102	likely benign	not specified	2015-07-29	criteria provided, single submitter	clinical testing
Invitae	RCV000474330	SCV000555554	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-24	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001281444	SCV001468752	uncertain significance	Brugada syndrome	2019-07-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040130	SCV001476333	benign	not specified	2020-02-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798143	SCV002042437	benign	Cardiomyopathy	2020-12-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534888	SCV004745152	likely benign	TTN-related disorder	2020-08-31	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).