ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr)

gnomAD frequency: 0.00001  dbSNP: rs368527797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618605 SCV000736909 uncertain significance Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing The p.I18205T variant (also known as c.54614T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 54614. The isoleucine at codon 18205 is replaced by threonine, 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.
Genetics and Genomics Program, Sidra Medicine RCV001293051 SCV001434031 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
Revvity Omics, Revvity RCV003139944 SCV003821790 uncertain significance not provided 2022-01-03 criteria provided, single submitter clinical testing

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