Submissions for variant NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)

gnomAD frequency: 0.00004  dbSNP: rs200723435

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000184166	SCV000236785	likely benign	not specified	2012-11-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000726819	SCV000703289	uncertain significance	not provided	2016-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000643768	SCV000765455	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336469	SCV002635927	uncertain significance	Cardiovascular phenotype	2020-08-18	criteria provided, single submitter	clinical testing	The p.G15773A variant (also known as c.47318G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 47318. The glycine at codon 15773 is replaced by alanine, an amino acid with 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.
CeGaT Center for Human Genetics Tuebingen	RCV000726819	SCV004701229	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: PM2