ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) (rs749523755)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201773 SCV000256308 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
GeneDx RCV000255254 SCV000322599 pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26092869, 25407461, 28497568)
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415153 SCV000492848 pathogenic Global developmental delay; Jaundice 2013-11-28 criteria provided, single submitter clinical testing
Invitae RCV000646703 SCV000768482 pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2018-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2606*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs749523755, ExAC 0.005%). This variant has been reported as compound heterozygous with a second, rare C5orf42 variant in several individuals affected with Joubert syndrome (PMID: 25407461, 26092869) and an individual affected with oral-facial-digital syndrome, type VI (PMID: 25407461). ClinVar contains an entry for this variant (Variation ID: 217575). Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000255254 SCV001247552 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198869 SCV001369864 pathogenic Orofaciodigital syndrome type 6 2018-11-26 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Institute of Human Genetics, University of Leipzig Medical Center RCV000201773 SCV001440964 pathogenic Joubert syndrome 17 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000255254 SCV001587908 pathogenic not provided 2020-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2606*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs749523755, ExAC 0.005%). This variant has been reported as compound heterozygous with a second, rare C5orf42 variant in several individuals affected with Joubert syndrome (PMID: 25407461, 26092869) and an individual affected with oral-facial-digital syndrome, type VI (PMID: 25407461). ClinVar contains an entry for this variant (Variation ID: 217575). Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.
Human Genetics - Radboudumc,Radboudumc RCV000255254 SCV001958470 pathogenic not provided no assertion criteria provided clinical testing

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