Submissions for variant NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser)

dbSNP: rs397516453

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036569	SCV000060224	uncertain significance	not specified	2014-07-03	criteria provided, single submitter	clinical testing	The Arg84Ser variant in TNNT2 has not been reported in any other families with c ardiomyopathy or in large population studies. It was not identified in 1 affecte d individual from one family tested by our laboratory, raising some concern as t o its ability to cause disease although the presence of additional variants in t his family leave the possibility that that more than one of them are independent ly disease causing. Arginine (Arg) at position 84 is not well conserved in evolu tion but the change to serine was predicted to be pathogenic using a computation al tool clinically validated by our laboratory. This tool's pathogenic predictio n is estimated to be correct 94% of the time (Jordan 2011). In summary, the clin ical significance of the Arg84Ser variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171168	SCV001333857	uncertain significance	Cardiomyopathy	2019-02-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450676	SCV004181519	uncertain significance	Dilated cardiomyopathy 1D	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450677	SCV004181520	uncertain significance	Cardiomyopathy, familial restrictive, 3	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450675	SCV004181521	uncertain significance	Hypertrophic cardiomyopathy 2	2023-04-11	criteria provided, single submitter	clinical testing