Submissions for variant NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp)

dbSNP: rs763722868

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002359218	SCV002654936	uncertain significance	Cardiovascular phenotype	2020-07-10	criteria provided, single submitter	clinical testing	The p.R2052W variant (also known as c.6154C>T), located in coding exon 26 of the TTN gene, results from a C to T substitution at nucleotide position 6154. The arginine at codon 2052 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics	RCV002496036	SCV002790855	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	2022-02-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702012	SCV001932714	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001702012	SCV001952528	uncertain significance	not provided		no assertion criteria provided	clinical testing