ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77470C>T (p.Arg25824Cys)

gnomAD frequency: 0.00002  dbSNP: rs778684474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000322216 SCV000337135 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338839 SCV002642976 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.R16759C variant (also known as c.50275C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 50275. The arginine at codon 16759 is replaced by cysteine, an amino acid with highly 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.

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