ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44792C>G (p.Thr14931Ser)

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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 RCV002401633 SCV002714352 uncertain significance Cardiovascular phenotype 2020-08-24 criteria provided, single submitter clinical testing The p.T5866S variant (also known as c.17597C>G), located in coding exon 69 of the TTN gene, results from a C to G substitution at nucleotide position 17597. The threonine at codon 5866 is replaced by serine, 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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