ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly)

gnomAD frequency: 0.00002  dbSNP: rs766674127
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768828 SCV000900201 uncertain significance Cardiomyopathy 2016-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397535 SCV002674847 uncertain significance Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing The p.E25707G variant (also known as c.77120A>G), located in coding exon 185 of the TTN gene, results from an A to G substitution at nucleotide position 77120. The glutamic acid at codon 25707 is replaced by glycine, 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.
Invitae RCV002536605 SCV003258128 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 34772 of the TTN protein (p.Glu34772Gly). This variant is present in population databases (rs766674127, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of TTN-related conditions (PMID: 32039858). ClinVar contains an entry for this variant (Variation ID: 626395). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.