Submissions for variant NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)

gnomAD frequency: 0.00001  dbSNP: rs727504501

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155639	SCV000205347	uncertain significance	not specified	2013-04-03	criteria provided, single submitter	clinical testing	The Glu3059Val variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has not been identified in large European American and African American populations by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/), though it may be present in other populations. Computational analyses (biochemical amino acid properties, conserv ation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agai nst an impact to the protein. Additional information is needed to fully assess t he clinical significance of this variant.
Eurofins Ntd Llc (ga)	RCV000733861	SCV000861963	uncertain significance	not provided	2018-06-21	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293227	SCV001434226	uncertain significance	Primary dilated cardiomyopathy		criteria provided, single submitter	research
GeneDx	RCV000733861	SCV001873729	likely benign	not provided	2021-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372016	SCV002687644	uncertain significance	Cardiovascular phenotype	2018-08-28	criteria provided, single submitter	clinical testing	The p.E3013V variant (also known as c.9038A>T), located in coding exon 37 of the TTN gene, results from an A to T substitution at nucleotide position 9038. The glutamic acid at codon 3013 is replaced by valine, an amino acid with dissimilar 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	RCV000733861	SCV003821793	uncertain significance	not provided	2023-06-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486699	SCV004240193	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing