Submissions for variant NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)

gnomAD frequency: 0.00001  dbSNP: rs767075037

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000279006	SCV000333668	uncertain significance	not provided	2015-08-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768944	SCV000900317	uncertain significance	Cardiomyopathy	2015-09-11	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV000279006	SCV002501969	uncertain significance	not provided	2022-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328762	SCV002630893	uncertain significance	Cardiovascular phenotype	2018-12-19	criteria provided, single submitter	clinical testing	The p.G14346S variant (also known as c.43036G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 43036. The glycine at codon 14346 is replaced by serine, an amino acid with 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 alteration remains unclear.
Revvity Omics, Revvity	RCV000279006	SCV003825417	uncertain significance	not provided	2019-10-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000279006	SCV004169216	uncertain significance	not provided	2023-09-26	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge