Submissions for variant NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)

gnomAD frequency: 0.00002  dbSNP: rs1482776876

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000518486	SCV000616131	uncertain significance	not specified	2017-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329226	SCV002633265	uncertain significance	Cardiovascular phenotype	2020-02-11	criteria provided, single submitter	clinical testing	The p.K14430N variant (also known as c.43290A>T), located in coding exon 153 of the TTN gene, results from an A to T substitution at nucleotide position 43290. The lysine at codon 14430 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not 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.
Revvity Omics, Revvity	RCV001700139	SCV003822195	uncertain significance	not provided	2020-12-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700139	SCV001924618	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001700139	SCV001963550	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700139	SCV001979416	uncertain significance	not provided		no assertion criteria provided	clinical testing