Submissions for variant NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)

dbSNP: rs777730788

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185451	SCV000238372	uncertain significance	not specified	2014-02-06	criteria provided, single submitter	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 CARDIOMYOPATHY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000643774	SCV000765461	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-12	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293081	SCV001434064	uncertain significance	Primary dilated cardiomyopathy		criteria provided, single submitter	research
Revvity Omics, Revvity	RCV003137761	SCV003822349	uncertain significance	not provided	2022-05-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539731	SCV004797039	likely benign	TTN-related disorder	2022-03-31	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).