ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65906A>G (p.Tyr21969Cys)

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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 RCV002355625 SCV002620516 uncertain significance Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing The p.Y12904C variant (also known as c.38711A>G), located in coding exon 141 of the TTN gene, results from an A to G substitution at nucleotide position 38711. The tyrosine at codon 12904 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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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