ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67136T>C (p.Ile22379Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003151679 SCV003839189 uncertain significance not specified 2022-06-27 no assertion criteria provided clinical testing DNA sequence analysis of the TTN gene demonstrated a sequence change, c.59432T>C, in exon 267 that results in an amino acid change, p.Ile19811Thr. This sequence change does not appear to have been previously described in individuals with TTN-related disorders and has also not been described in population databases such as ExAC and gnomAD. The p.Ile19811Thr change affects a highly conserved amino acid residue located in a domain of the TTN protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Ile19811Thr substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Ile19811Thr change remains unknown at this time.

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