ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71C>G (p.Thr24Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002370842 SCV002672343 uncertain significance Cardiovascular phenotype 2018-12-18 criteria provided, single submitter clinical testing The p.T24S variant (also known as c.71C>G), located in coding exon 1 of the TTN gene, results from a C to G substitution at nucleotide position 71. The threonine at codon 24 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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