ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.510del (p.Leu171fs) (rs779680371)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201554 SCV000256311 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
Invitae RCV001065432 SCV001230389 pathogenic not provided 2019-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu171Serfs*11) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual within a cohort of individuals who have clinical findings of Joubert syndrome or have a sibling with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217578). 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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