ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94180_94181delinsTCTAGCAG (p.Pro31394delinsSerSerSer)

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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 RCV002367093 SCV002664876 uncertain significance Cardiovascular phenotype 2024-08-05 criteria provided, single submitter clinical testing The c.66985_66986delCCinsTCTAGCAG variant, located in coding exon 166 of the TTN gene, results from an in-frame deletion of CC and insertion of TCTAGCAG at nucleotide positions 66985 to 66986. This results in the substitution of the proline residue for three serine residues at codon 22329, an amino acid with highly similar properties. This amino acid position 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). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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