Submissions for variant NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)

gnomAD frequency: 0.00012  dbSNP: rs775591945

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000714115	SCV000237747	likely benign	not provided	2018-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461669	SCV000542821	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-09-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000714115	SCV000701320	uncertain significance	not provided	2016-12-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714115	SCV000844790	uncertain significance	not provided	2018-08-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170306	SCV001332875	uncertain significance	Cardiomyopathy	2018-05-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362958	SCV002659552	uncertain significance	Cardiovascular phenotype	2018-09-17	criteria provided, single submitter	clinical testing	The p.R21402C variant (also known as c.64204C>T), located in coding exon 163 of the TTN gene, results from a C to T substitution at nucleotide position 64204. The arginine at codon 21402 is replaced by cysteine, an amino acid with highly dissimilar 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	RCV000714115	SCV003820137	uncertain significance	not provided	2019-03-27	criteria provided, single submitter	clinical testing