Submissions for variant NM_001267550.2(TTN):c.75364G>A (p.Val25122Met)

gnomAD frequency: 0.00001  dbSNP: rs376821762

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220355	SCV000272759	uncertain significance	not specified	2015-07-28	criteria provided, single submitter	clinical testing	The p.Val22554Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/66722 European chromosomes an d 2/11554 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs376821762). Computational prediction tools and c onservation analysis do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the p.Val22554Met variant i s uncertain.
Eurofins Ntd Llc (ga)	RCV000725756	SCV000701123	uncertain significance	not provided	2016-12-27	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725756	SCV003821082	uncertain significance	not provided	2019-03-14	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000220355	SCV006067835	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing