ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8330A>G (p.Tyr2777Cys)

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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 RCV002427851 SCV002680096 uncertain significance Cardiovascular phenotype 2018-08-31 criteria provided, single submitter clinical testing The p.Y2731C variant (also known as c.8192A>G), located in coding exon 33 of the TTN gene, results from an A to G substitution at nucleotide position 8192. The tyrosine at codon 2731 is replaced by cysteine, an amino acid with some highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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