Submissions for variant NM_001267550.2(TTN):c.752A>G (p.His251Arg)

dbSNP: rs587782983

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002390300	SCV002672681	uncertain significance	Cardiovascular phenotype	2019-07-27	criteria provided, single submitter	clinical testing	The p.H251R variant (also known as c.752A>G), located in coding exon 5 of the TTN gene, results from an A to G substitution at nucleotide position 752. The histidine at codon 251 is replaced by arginine, 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	RCV002505119	SCV002816763	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	2021-09-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003137642	SCV003819584	uncertain significance	not provided	2019-11-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149915	SCV003838068	uncertain significance	Cardiomyopathy	2021-11-26	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000143962	SCV000188843	uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	2013-12-27	no assertion criteria provided	clinical testing