ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)

gnomAD frequency: 0.00003  dbSNP: rs770770257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV000599682 SCV000579466 pathogenic Joubert syndrome 17 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091009 SCV005815778 pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1911*) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPLANE1 are known to be pathogenic (PMID: 24178751, 26092869). This variant is present in population databases (rs770770257, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 25407461, 29321670). ClinVar contains an entry for this variant (Variation ID: 427893). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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