Submissions for variant NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)

gnomAD frequency: 0.00010  dbSNP: rs201506104

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041102	SCV000064793	likely benign	not specified	2014-07-24	criteria provided, single submitter	clinical testing	Val4126Met in exon 45B of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >20 mammals have a methionine (Met) at this position despite high nearby ami no acid conservation. This variant has also been identified in 3/3706 African A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs201506104).
Eurofins Ntd Llc (ga)	RCV000726435	SCV000344613	uncertain significance	not provided	2016-08-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000041102	SCV000722491	likely benign	not specified	2017-08-24	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.