ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88253C>A (p.Ser29418Tyr)

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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 RCV002360190 SCV002658113 uncertain significance Cardiovascular phenotype 2018-10-16 criteria provided, single submitter clinical testing The p.S20353Y variant (also known as c.61058C>A), located in coding exon 157 of the TTN gene, results from a C to A substitution at nucleotide position 61058. The serine at codon 20353 is replaced by tyrosine, an amino acid with 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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