ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys)

gnomAD frequency: 0.00005  dbSNP: rs398124463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082474 SCV000114511 uncertain significance not provided 2013-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000082474 SCV000974889 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002399472 SCV002669341 uncertain significance Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing The p.R25796C variant (also known as c.77386C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 77386. The arginine at codon 25796 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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