Submissions for variant NM_001267550.2(TTN):c.61206C>T (p.Pro20402=)

dbSNP: rs1559582385

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756858	SCV000884812	likely benign	not provided	2018-06-04	criteria provided, single submitter	clinical testing	The c.53502C>T; p.Pro17834Pro variant does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is absent from the genome Aggregation Database (gnomAD); however evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the c.53502C>T variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087696	SCV001019617	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000756858	SCV001796610	likely benign	not provided	2019-12-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798971	SCV002042576	likely benign	Cardiomyopathy	2020-09-30	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV005405293	SCV006066482	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540078	SCV004777115	likely benign	TTN-related disorder	2019-09-03	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).