Submissions for variant NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)

dbSNP: rs761105256

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221822	SCV000272828	uncertain significance	not specified	2015-07-30	criteria provided, single submitter	clinical testing	The p.Glu31937Val variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/66738 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s761105256). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Glu31937Val variant is uncertain.
Eurofins Ntd Llc (ga)	RCV000725519	SCV000337469	uncertain significance	not provided	2015-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000725519	SCV000984625	likely benign	not provided	2018-04-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.