Submissions for variant NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)

gnomAD frequency: 0.00007  dbSNP: rs369899675

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152187	SCV000200926	uncertain significance	not specified	2014-03-14	criteria provided, single submitter	clinical testing	The Arg28674His variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 1/8312 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Additional information is needed to fully ass ess the clinical significance of the Arg28674His variant.
GeneDx	RCV001704095	SCV000237779	likely benign	not provided	2019-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27930701)
Ambry Genetics	RCV002362797	SCV002663826	likely benign	Cardiovascular phenotype	2020-07-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV001704095	SCV003820337	uncertain significance	not provided	2019-06-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704095	SCV004150227	uncertain significance	not provided	2022-06-01	criteria provided, single submitter	clinical testing