Submissions for variant NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln)

gnomAD frequency: 0.00002  dbSNP: rs772536290

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000250641	SCV000320445	uncertain significance	Cardiovascular phenotype	2017-03-01	criteria provided, single submitter	clinical testing	The p.R19949Q variant (also known as c.59846G>A), located in coding exon 154 of the TTN gene, results from a G to A substitution at nucleotide position 59846. The arginine at codon 19949 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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 variant remains unclear.
Eurofins Ntd Llc (ga)	RCV000728537	SCV000856127	uncertain significance	not provided	2017-07-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000728537	SCV001741831	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000728537	SCV001922036	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000728537	SCV001926587	uncertain significance	not provided		no assertion criteria provided	clinical testing