ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48286G>A (p.Glu16096Lys)

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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 RCV002424329 SCV002728409 uncertain significance Cardiovascular phenotype 2020-01-23 criteria provided, single submitter clinical testing The p.E7031K variant (also known as c.21091G>A), located in coding exon 84 of the TTN gene, results from a G to A substitution at nucleotide position 21091. The glutamic acid at codon 7031 is replaced by lysine, an amino acid with 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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