ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88112T>A (p.Ile29371Asn)

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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 RCV002360057 SCV002658000 uncertain significance Cardiovascular phenotype 2018-12-03 criteria provided, single submitter clinical testing The p.I20306N variant (also known as c.60917T>A), located in coding exon 157 of the TTN gene, results from a T to A substitution at nucleotide position 60917. The isoleucine at codon 20306 is replaced by asparagine, an amino acid with dissimilar 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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