ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84053C>A (p.Thr28018Lys)

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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 RCV002347448 SCV002652449 uncertain significance Cardiovascular phenotype 2020-07-08 criteria provided, single submitter clinical testing The p.T18953K variant (also known as c.56858C>A), located in coding exon 153 of the TTN gene, results from a C to A substitution at nucleotide position 56858. The threonine at codon 18953 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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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