ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83622T>G (p.Asp27874Glu)

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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 RCV002345131 SCV002652935 uncertain significance Cardiovascular phenotype 2019-11-22 criteria provided, single submitter clinical testing The p.D18809E variant (also known as c.56427T>G), located in coding exon 153 of the TTN gene, results from a T to G substitution at nucleotide position 56427. The aspartic acid at codon 18809 is replaced by glutamic acid, an amino acid with highly 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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