ClinVar Miner

Submissions for variant NM_145038.5(DRC1):c.1196G>A (p.Trp399Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771759 SCV005382486 likely pathogenic Primary ciliary dyskinesia 21 2023-05-20 criteria provided, single submitter clinical testing The observed stop gained variant c.1196G>A(p.Trp399Ter) in DRC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1196G>A variant has 0.004% allele frequency in gnomAD Exomes. Computational evidence (Mutation Taster - Disease causing) predicts damaging effect on protein structure and function for this variant.This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Wirschell M, et al., 2013). For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

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