ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) (rs151227843)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756834 SCV000884764 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000756834 SCV000617036 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing The R939W variant in the TTC21B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R939W variant is observed in 41/66720 (0.06%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R939W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. In vivo complementation assays in zebrafish using transfection of R939W in cell lines whose TTC21B RNA had been knocked down show that R939W failed to rescue cilia length, suggesting that R939W may be functionally null (Davis et al., 2011). We interpret R939W as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000387559 SCV000417615 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281585 SCV000417616 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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