ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73594A>C (p.Thr24532Pro)

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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 RCV002330424 SCV002633499 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.T15467P variant (also known as c.46399A>C), located in coding exon 153 of the TTN gene, results from an A to C substitution at nucleotide position 46399. The threonine at codon 15467 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly 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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