Submissions for variant NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)

gnomAD frequency: 0.00001  dbSNP: rs535876380

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000643182	SCV000764869	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000714127	SCV000844803	uncertain significance	not provided	2018-07-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386071	SCV002694170	uncertain significance	Cardiovascular phenotype	2018-07-08	criteria provided, single submitter	clinical testing	The p.R3211H variant (also known as c.9632G>A), located in coding exon 40 of the TTN gene, results from a G to A substitution at nucleotide position 9632. The arginine at codon 3211 is replaced by histidine, an amino acid with highly similar 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	RCV002483841	SCV002777937	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	2021-10-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000714127	SCV003819173	uncertain significance	not provided	2021-02-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000714127	SCV004148187	uncertain significance	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TTN: PM2