ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67445G>T (p.Arg22482Leu)

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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 RCV002359508 SCV002622346 uncertain significance Cardiovascular phenotype 2019-02-17 criteria provided, single submitter clinical testing The p.R13417L variant (also known as c.40250G>T), located in coding exon 146 of the TTN gene, results from a G to T substitution at nucleotide position 40250. The arginine at codon 13417 is replaced by leucine, an amino acid with dissimilar 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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