ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)

gnomAD frequency: 0.00002  dbSNP: rs147416429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201628 SCV000256298 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
Baylor Genetics RCV001332490 SCV001524830 pathogenic Orofaciodigital syndrome type 6 2019-11-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002517309 SCV003525782 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217566). This variant is also known as C5ORF42 p.R2660X. This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 22693042, 26092869, 33176815). This variant is present in population databases (rs147416429, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg2660*) 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).
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University RCV000201628 SCV003803082 uncertain significance Joubert syndrome 17 no assertion criteria provided clinical testing

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