ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)

dbSNP: rs763729258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727518 SCV000709390 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000594415 SCV000729046 likely benign not specified 2017-06-05 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 RCV002377239 SCV002624833 uncertain significance Cardiovascular phenotype 2020-01-09 criteria provided, single submitter clinical testing The p.R13064C variant (also known as c.39190C>T), located in coding exon 142 of the TTN gene, results from a C to T substitution at nucleotide position 39190. The arginine at codon 13064 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.
Revvity Omics, Revvity RCV000727518 SCV003819698 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing

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