Submissions for variant NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)

gnomAD frequency: 0.00009  dbSNP: rs373204984

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704917	SCV000237519	likely benign	not provided	2020-12-21	criteria provided, single submitter	clinical testing
Invitae	RCV000472425	SCV000542350	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336482	SCV002640220	uncertain significance	Cardiovascular phenotype	2019-09-29	criteria provided, single submitter	clinical testing	The p.T15211S variant (also known as c.45631A>T), located in coding exon 153 of the TTN gene, results from an A to T substitution at nucleotide position 45631. The threonine at codon 15211 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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.
Revvity Omics, Revvity	RCV001704917	SCV003820219	uncertain significance	not provided	2019-07-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704917	SCV004033809	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4