Submissions for variant NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)

gnomAD frequency: 0.00014  dbSNP: rs571328201

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000365750	SCV000335320	uncertain significance	not provided	2015-09-15	criteria provided, single submitter	clinical testing
Invitae	RCV000466790	SCV000543036	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620064	SCV000735799	uncertain significance	Cardiovascular phenotype	2019-05-09	criteria provided, single submitter	clinical testing	The p.Y17824C variant (also known as c.53471A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 53471. The tyrosine at codon 17824 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.
CeGaT Center for Human Genetics Tuebingen	RCV000365750	SCV001152730	uncertain significance	not provided	2017-08-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502106	SCV002784498	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-11-03	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000365750	SCV003826618	uncertain significance	not provided	2022-08-16	criteria provided, single submitter	clinical testing