Submissions for variant NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)

gnomAD frequency: 0.00012  dbSNP: rs372802352

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000734897	SCV000237351	likely benign	not provided	2021-03-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617353	SCV000736038	uncertain significance	Cardiovascular phenotype	2019-11-20	criteria provided, single submitter	clinical testing	The p.G10681S variant (also known as c.32041G>A), located in coding exon 127 of the TTN gene, results from a G to A substitution at nucleotide position 32041. The glycine at codon 10681 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.
Eurofins Ntd Llc (ga)	RCV000734897	SCV000863076	uncertain significance	not provided	2018-08-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000734897	SCV002770559	uncertain significance	not provided	2021-07-20	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000734897	SCV003821765	uncertain significance	not provided	2021-11-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000734897	SCV005075702	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4