ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86891T>C (p.Leu28964Pro)

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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 RCV002356067 SCV002657838 uncertain significance Cardiovascular phenotype 2020-08-18 criteria provided, single submitter clinical testing The p.L19899P variant (also known as c.59696T>C), located in coding exon 154 of the TTN gene, results from a T to C substitution at nucleotide position 59696. The leucine at codon 19899 is replaced by proline, an amino acid with similar properties. This amino acid position is 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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