ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59242C>T (p.Arg19748Trp)

gnomAD frequency: 0.00007  dbSNP: rs780429608
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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 RCV002323003 SCV002609197 uncertain significance Cardiovascular phenotype 2019-04-19 criteria provided, single submitter clinical testing The p.R10683W variant (also known as c.32047C>T), located in coding exon 127 of the TTN gene, results from a C to T substitution at nucleotide position 32047. The arginine at codon 10683 is replaced by tryptophan, an amino acid with 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.
Revvity Omics, Revvity RCV003138169 SCV003823023 uncertain significance not provided 2020-11-06 criteria provided, single submitter clinical testing

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