Submissions for variant NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)

gnomAD frequency: 0.00005  dbSNP: rs371156190

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727179	SCV000237552	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing
Invitae	RCV000468625	SCV000543122	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-09-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727179	SCV000706412	uncertain significance	not provided	2017-02-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765592	SCV000896907	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	2018-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426899	SCV002743240	uncertain significance	Cardiovascular phenotype	2019-04-18	criteria provided, single submitter	clinical testing	The p.R866C variant (also known as c.2596C>T), located in coding exon 14 of the TTN gene, results from a C to T substitution at nucleotide position 2596. The arginine at codon 866 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000727179	SCV003821034	uncertain significance	not provided	2019-06-24	criteria provided, single submitter	clinical testing