ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1364C>G (p.Thr455Arg)

dbSNP: rs368121196
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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 RCV002383555 SCV002697602 uncertain significance Cardiovascular phenotype 2018-10-24 criteria provided, single submitter clinical testing The p.T455R variant (also known as c.1364C>G), located in coding exon 7 of the TTN gene, results from a C to G substitution at nucleotide position 1364. The threonine at codon 455 is replaced by arginine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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 RCV003138242 SCV003819029 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing

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