ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55487G>A (p.Cys18496Tyr)

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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 RCV002435058 SCV002746709 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.C9431Y variant (also known as c.28292G>A), located in coding exon 114 of the TTN gene, results from a G to A substitution at nucleotide position 28292. The cysteine at codon 9431 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well 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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