ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779233 SCV000915785 uncertain significance Ciliary dyskinesia, primary, 15 2017-09-08 criteria provided, single submitter clinical testing Based on the potential impact of frameshift variants and the evidence, the p.Trp77LeufsTer13 variant is classified as likely pathogenic for Desbuquois dysplasia.
Invitae RCV000696160 SCV000824708 pathogenic Primary ciliary dyskinesia 2018-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys438*) in the CCDC40 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs371595543, ExAC 0.01%). This variant has been reported in an individual affected with primary ciliary dyskinesia (PMID: 22499950). Loss-of-function variants in CCDC40 are known to be pathogenic (PMID: 21131974, 22693285, 23255504). For these reasons, this variant has been classified as Pathogenic.

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