ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47917G>A (p.Glu15973Lys)

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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 RCV002422155 SCV002725698 uncertain significance Cardiovascular phenotype 2018-09-26 criteria provided, single submitter clinical testing The p.E6908K variant (also known as c.20722G>A), located in coding exon 83 of the TTN gene, results from a G to A substitution at nucleotide position 20722. The glutamic acid at codon 6908 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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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