ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57859C>T (p.Arg19287Cys)

gnomAD frequency: 0.00001  dbSNP: rs372710684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621834 SCV000736736 uncertain significance Cardiovascular phenotype 2017-01-04 criteria provided, single submitter clinical testing The p.R10222C variant (also known as c.30664C>T), located in coding exon 123 of the TTN gene, results from a C to T substitution at nucleotide position 30664. The arginine at codon 10222 is replaced by cysteine, an amino acid with highly dissimilar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This amino acid position is highly 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004791629 SCV005413072 uncertain significance not provided 2024-08-21 criteria provided, single submitter clinical testing

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