ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) (rs371807358)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601745 SCV000721335 likely benign not specified 2017-07-27 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 RCV000619886 SCV000736526 uncertain significance Cardiovascular phenotype 2017-06-20 criteria provided, single submitter clinical testing The p.R23746C variant (also known as c.71236C>T), located in coding exon 179 of the TTN gene, results from a C to T substitution at nucleotide position 71236. The arginine at codon 23746 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is 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.
Athena Diagnostics Inc RCV000993519 SCV001146556 uncertain significance not provided 2018-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000993519 SCV001152619 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing

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