Submissions for variant NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)

gnomAD frequency: 0.00009  dbSNP: rs766145596

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000730971	SCV000727158	likely benign	not provided	2019-10-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000643597	SCV000765284	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000730971	SCV000858741	uncertain significance	not provided	2017-12-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770047	SCV000901473	uncertain significance	Cardiomyopathy	2015-12-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000730971	SCV003822296	uncertain significance	not provided	2019-11-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735669	SCV005350092	uncertain significance	TTN-related disorder	2024-08-11	no assertion criteria provided	clinical testing	The TTN c.40395A>G variant is predicted to result in the amino acid substitution p.Ile13465Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.