ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66345A>C (p.Leu22115Phe)

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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 RCV002357518 SCV002620313 uncertain significance Cardiovascular phenotype 2020-07-01 criteria provided, single submitter clinical testing The p.L13050F variant (also known as c.39150A>C), located in coding exon 142 of the TTN gene, results from an A to C substitution at nucleotide position 39150. The leucine at codon 13050 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is poorly 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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