Submissions for variant NM_001267550.2(TTN):c.26464G>A (p.Ala8822Thr)

gnomAD frequency: 0.00003  dbSNP: rs184883436

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV000185454	SCV003820312	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150082	SCV003838647	uncertain significance	Cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000185454	SCV004155246	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4
GeneDx	RCV000185454	SCV000238375	not provided	not provided	2014-08-18	no assertion provided	clinical testing	Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s).