ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) (rs1554064102)

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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 RCV000201534 SCV000256297 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
Invitae RCV000646711 SCV000768490 pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2017-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2755Serfs*8) in the C5orf42 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 reported in the literature in individuals affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217565). Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.

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