ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.5557C>T (p.Gln1853Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039457 SCV001202987 pathogenic not provided 2019-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1853*) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766699868, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 28976722). Loss-of-function variants in CPLANE1 are known to be pathogenic (PMID: 22425360, 24178751). For these reasons, this variant has been classified as Pathogenic.

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