ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41924C>T (p.Thr13975Ile)

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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 RCV002396952 SCV002697975 uncertain significance Cardiovascular phenotype 2019-03-13 criteria provided, single submitter clinical testing The p.T4910I variant (also known as c.14729C>T), located in coding exon 55 of the TTN gene, results from a C to T substitution at nucleotide position 14729. The threonine at codon 4910 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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