ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69510A>C (p.Glu23170Asp)

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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 RCV002328126 SCV002632803 uncertain significance Cardiovascular phenotype 2019-04-12 criteria provided, single submitter clinical testing The p.E14105D variant (also known as c.42315A>C), located in coding exon 152 of the TTN gene, results from an A to C substitution at nucleotide position 42315. The glutamic acid at codon 14105 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, aspartic acid is the reference amino acid in other 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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