ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79211C>T (p.Thr26404Ile)

gnomAD frequency: 0.00001  dbSNP: rs786205300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172249 SCV000051132 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV002336412 SCV002641579 uncertain significance Cardiovascular phenotype 2019-11-20 criteria provided, single submitter clinical testing The p.T17339I variant (also known as c.52016C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 52016. The threonine at codon 17339 is replaced by isoleucine, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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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