ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94093C>T (p.Arg31365Cys)

gnomAD frequency: 0.00004  dbSNP: rs372593328
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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 RCV000618219 SCV000737295 uncertain significance Cardiovascular phenotype 2017-07-31 criteria provided, single submitter clinical testing The p.R22300C variant (also known as c.66898C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 66898. The arginine at codon 22300 is replaced by cysteine, an amino acid with highly dissimilar 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.
Eurofins Ntd Llc (ga) RCV000730619 SCV000858370 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing

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