ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42473C>T (p.Thr14158Ile)

gnomAD frequency: 0.00002  dbSNP: rs373227762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518083 SCV000616079 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395241 SCV002709660 uncertain significance Cardiovascular phenotype 2019-12-20 criteria provided, single submitter clinical testing The p.T5093I variant (also known as c.15278C>T), located in coding exon 58 of the TTN gene, results from a C to T substitution at nucleotide position 15278. The threonine at codon 5093 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.
Revvity Omics, Revvity RCV003139727 SCV003823629 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing

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