Submissions for variant NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln)

gnomAD frequency: 0.00006  dbSNP: rs750056949

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852506	SCV000995202	uncertain significance	Atrial fibrillation	2017-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002332752	SCV002633388	uncertain significance	Cardiovascular phenotype	2020-01-31	criteria provided, single submitter	clinical testing	The p.R15399Q variant (also known as c.46196G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 46196. The arginine at codon 15399 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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	RCV003489940	SCV004237075	uncertain significance	not provided	2023-02-07	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV004559706	SCV005049310	uncertain significance	Tibial muscular dystrophy	2024-03-12	criteria provided, single submitter	clinical testing