ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69307A>C (p.Lys23103Gln)

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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 RCV002327965 SCV002630709 uncertain significance Cardiovascular phenotype 2020-03-30 criteria provided, single submitter clinical testing The p.K14038Q variant (also known as c.42112A>C), located in coding exon 151 of the TTN gene, results from an A to C substitution at nucleotide position 42112. The lysine at codon 14038 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly 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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