ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2042C>T (p.Thr681Ile)

gnomAD frequency: 0.00001  dbSNP: rs551313395
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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 RCV002408313 SCV002722660 uncertain significance Cardiovascular phenotype 2019-03-07 criteria provided, single submitter clinical testing The p.T635I variant (also known as c.1904C>T), located in coding exon 11 of the TTN gene, results from a C to T substitution at nucleotide position 1904. The threonine at codon 635 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other 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.
Revvity Omics, Revvity RCV003491108 SCV004237368 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing
GeneDx RCV003491108 SCV005419520 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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