ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71114C>T (p.Pro23705Leu)

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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 RCV002333651 SCV002628768 uncertain significance Cardiovascular phenotype 2020-07-06 criteria provided, single submitter clinical testing The p.P14640L variant (also known as c.43919C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 43919. The proline at codon 14640 is replaced by leucine, 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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