ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81794C>T (p.Thr27265Ile)

gnomAD frequency: 0.00013  dbSNP: rs371129005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714099 SCV000844768 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343590 SCV002653831 uncertain significance Cardiovascular phenotype 2019-09-30 criteria provided, single submitter clinical testing The p.T18200I variant (also known as c.54599C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 54599. The threonine at codon 18200 is replaced by isoleucine, 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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