ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44018G>A (p.Arg14673Gln)

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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 RCV002406047 SCV002710675 uncertain significance Cardiovascular phenotype 2019-07-18 criteria provided, single submitter clinical testing The p.R5608Q variant (also known as c.16823G>A), located in coding exon 65 of the TTN gene, results from a G to A substitution at nucleotide position 16823. The arginine at codon 5608 is replaced by glutamine, an amino acid with highly similar properties. 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.
Revvity Omics, Revvity RCV003138250 SCV003819061 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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