ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys)

gnomAD frequency: 0.00001  dbSNP: rs1232069163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799211 SCV002042567 likely benign Cardiomyopathy 2021-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449427 SCV002611315 uncertain significance Cardiovascular phenotype 2020-01-31 criteria provided, single submitter clinical testing The p.R10780C variant (also known as c.32338C>T), located in coding exon 128 of the TTN gene, results from a C to T substitution at nucleotide position 32338. The arginine at codon 10780 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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