Submissions for variant NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)

gnomAD frequency: 0.00006  dbSNP: rs775499341

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704702	SCV000714133	likely benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV000861017	SCV001001220	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000608835	SCV001475033	benign	not specified	2020-03-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840690	SCV002102338	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840691	SCV002102340	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840692	SCV002102341	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840689	SCV002102342	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350441	SCV002647356	uncertain significance	Cardiovascular phenotype	2018-12-26	criteria provided, single submitter	clinical testing	The p.R18629H variant (also known as c.55886G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 55886. The arginine at codon 18629 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected with a second TTN variant in a cohort of individuals without structural heart disease (Mademont-Soler I et al. PLoS ONE. 2017;12(8):e0181465). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging by PolyPhen and SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004543405	SCV004759336	likely benign	TTN-related disorder	2023-05-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).