Submissions for variant NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)

gnomAD frequency: 0.00005  dbSNP: rs368025965

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152276	SCV000201128	uncertain significance	not specified	2014-06-16	criteria provided, single submitter	clinical testing	The Leu16771Phe variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 3/8244 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; db SNP rs368025965). Computational prediction tools and conservation analysis do no t provide strong support for or against an impact to the protein. In summary, t he clinical significance of the Leu16771Phe variant is uncertain.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000152276	SCV000257868	uncertain significance	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000714057	SCV000701788	uncertain significance	not provided	2017-04-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714057	SCV000844723	uncertain significance	not provided	2018-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000714057	SCV001793572	likely benign	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002319446	SCV002608830	uncertain significance	Cardiovascular phenotype	2019-07-08	criteria provided, single submitter	clinical testing	The p.L10274F variant (also known as c.30822G>C), located in coding exon 123 of the TTN gene, results from a G to C substitution at nucleotide position 30822. The leucine at codon 10274 is replaced by phenylalanine, 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.
Revvity Omics, Revvity	RCV000714057	SCV003824128	uncertain significance	not provided	2023-06-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000714057	SCV003916187	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4