ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) (rs139675596)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763544 SCV000894357 pathogenic Orofaciodigital syndrome 6; Joubert syndrome 17 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000024222 SCV000058555 pathologic Joubert syndrome 17 2012-03-29 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000024222 SCV000652568 pathogenic Joubert syndrome 17 2017-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2493*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs139675596, ExAC 0.01%). This variant has been reported to segregate with Joubert syndrome in a single family (PMID: 22425360, 23012439). It has also been reported in several additional individuals affected with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 31223). Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024222 SCV000045513 pathogenic Joubert syndrome 17 2012-04-06 no assertion criteria provided literature only
UW Hindbrain Malformation Research Program,University of Washington RCV000024222 SCV000256296 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research

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