ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69638G>C (p.Arg23213Pro)

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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 RCV002329798 SCV002629779 uncertain significance Cardiovascular phenotype 2018-11-29 criteria provided, single submitter clinical testing The p.R14148P variant (also known as c.42443G>C), located in coding exon 152 of the TTN gene, results from a G to C substitution at nucleotide position 42443. The arginine at codon 14148 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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