ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56909_56920del (p.Gly18970_Pro18973del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004508590 SCV005020415 uncertain significance Cardiovascular phenotype 2024-01-17 criteria provided, single submitter clinical testing The c.29714_29725del12 variant (also known as p.G9905_P9908del) is located in coding exon 118 of the TTN gene. This variant results from an in-frame GCGTGGGTCCAG deletion at nucleotide positions 29714 to 29725. This results in the in-frame deletion of four amino acids (GVGP) at codons 9905 to 9908. This amino acid region is well 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 alteration remains unclear.

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