ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81898C>T (p.Arg27300Cys)

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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 RCV002349797 SCV002654308 uncertain significance Cardiovascular phenotype 2020-08-17 criteria provided, single submitter clinical testing The p.R18235C variant (also known as c.54703C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 54703. The arginine at codon 18235 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not 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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