ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69749C>T (p.Thr23250Ile)

gnomAD frequency: 0.00003  dbSNP: rs771327436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594583 SCV000706896 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331020 SCV002627026 uncertain significance Cardiovascular phenotype 2020-01-28 criteria provided, single submitter clinical testing The p.T14185I variant (also known as c.42554C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 42554. The threonine at codon 14185 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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