ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68074G>T (p.Val22692Leu)

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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 RCV002323159 SCV002632655 uncertain significance Cardiovascular phenotype 2019-07-10 criteria provided, single submitter clinical testing The p.V13627L variant (also known as c.40879G>T), located in coding exon 147 of the TTN gene, results from a G to T substitution at nucleotide position 40879. The valine at codon 13627 is replaced by leucine, an amino acid with highly 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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