ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65177_65179del (p.Glu21726del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003487157 SCV004240062 uncertain significance Cardiomyopathy 2023-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992616 SCV005521515 uncertain significance Cardiovascular phenotype 2024-08-15 criteria provided, single submitter clinical testing The c.37982_37984delAAG variant (also known as p.E12661del) is located in coding exon 138 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 37982 to 37984. This results in the in-frame deletion of a glutamic acid at codon 12661. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.

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