Submissions for variant NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)

gnomAD frequency: 0.00009  dbSNP: rs142395261

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213884	SCV000272674	uncertain significance	not specified	2015-01-28	criteria provided, single submitter	clinical testing	The p.Arg14655Gln variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/9966 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 42395261). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Arg14655Gln variant is uncertain.
Invitae	RCV000472424	SCV000543014	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-05-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000997459	SCV001152888	uncertain significance	not provided	2019-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000997459	SCV001752250	likely benign	not provided	2021-02-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450636	SCV002736774	uncertain significance	Cardiovascular phenotype	2019-09-30	criteria provided, single submitter	clinical testing	The p.R8158Q variant (also known as c.24473G>A), located in coding exon 99 of the TTN gene, results from a G to A substitution at nucleotide position 24473. The arginine at codon 8158 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000997459	SCV001809543	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000997459	SCV001959366	uncertain significance	not provided		no assertion criteria provided	clinical testing