Submissions for variant NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)

dbSNP: rs538641703

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001707764	SCV000719424	likely benign	not provided	2019-05-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769911	SCV000901337	uncertain significance	Cardiomyopathy	2017-08-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872544	SCV001014373	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358690	SCV002654276	uncertain significance	Cardiovascular phenotype	2019-04-10	criteria provided, single submitter	clinical testing	The p.R19559H variant (also known as c.58676G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58676. The arginine at codon 19559 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.