ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43227C>G (p.Ile14409Met)

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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 RCV002398729 SCV002709172 uncertain significance Cardiovascular phenotype 2020-04-13 criteria provided, single submitter clinical testing The p.I5344M variant (also known as c.16032C>G), located in coding exon 62 of the TTN gene, results from a C to G substitution at nucleotide position 16032. The isoleucine at codon 5344 is replaced by methionine, an amino acid with highly 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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