ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59176G>A (p.Glu19726Lys)

gnomAD frequency: 0.00001  dbSNP: rs1356102019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288573 SCV001475788 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322179 SCV002609659 uncertain significance Cardiovascular phenotype 2019-08-20 criteria provided, single submitter clinical testing The p.E10661K variant (also known as c.31981G>A), located in coding exon 127 of the TTN gene, results from a G to A substitution at nucleotide position 31981. The glutamic acid at codon 10661 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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