Submissions for variant NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)

dbSNP: rs148920986

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000548366	SCV000643656	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-07-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384159	SCV002674931	uncertain significance	Cardiovascular phenotype	2019-08-26	criteria provided, single submitter	clinical testing	The p.R2444L variant (also known as c.7331G>T), located in coding exon 30 of the TTN gene, results from a G to T substitution at nucleotide position 7331. The arginine at codon 2444 is replaced by leucine, 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.
Revvity Omics, Revvity	RCV003139826	SCV003822879	uncertain significance	not provided	2019-09-06	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV003139826	SCV003932161	uncertain significance	not provided	2023-03-01	criteria provided, single submitter	clinical testing	PM2, PP3