ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55964A>G (p.Tyr18655Cys)

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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 RCV002437720 SCV002751128 uncertain significance Cardiovascular phenotype 2020-09-10 criteria provided, single submitter clinical testing The p.Y9590C variant (also known as c.28769A>G), located in coding exon 115 of the TTN gene, results from an A to G substitution at nucleotide position 28769. The tyrosine at codon 9590 is replaced by cysteine, an amino acid with highly dissimilar 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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