ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94503_94505del (p.Ile31501del)

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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 RCV004993027 SCV005525537 uncertain significance Cardiovascular phenotype 2024-12-03 criteria provided, single submitter clinical testing The c.67308_67310delAAT variant (also known as p.I22436del) is located in coding exon 167 of the TTN gene. This variant results from an in-frame AAT deletion at nucleotide positions 67308 to 67310. This results in the in-frame deletion of an isoleucine at codon 22436. This amino acid position is poorly 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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