ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) (rs376493409)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201672 SCV000256387 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414892 SCV000492801 pathogenic Global developmental delay; Blindness 2015-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000493605 SCV000581997 pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing The Q1628X nonsense variant in the CEP290 gene has been previously reported as a compound heterozygous change in individuals with CEP290-related disorders (Perrault et al., 2007, Chaki et al., 2011). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1628X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret Q1628X as a pathogenic variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626966 SCV000747669 pathogenic Cystic renal dysplasia; Occipital encephalocele 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763311 SCV000893988 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000806654 SCV000946666 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1628*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs376493409, ExAC 0.008%). This variant has been observed in combination with other CEP290 variants in individuals with a personal or family history of Joubert syndrome or Leber congenital amaurosis (PMID: 17345604, 28497568, 21866095, 26092869). ClinVar contains an entry for this variant (Variation ID: 217635). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000493605 SCV001246566 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195985 SCV001366412 pathogenic Nystagmus; Abnormality of eye movement 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PM2,PM3,PP3,PP4. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197226 SCV001367863 pathogenic Ichthyosis (disease) 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP4. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197645 SCV001368424 pathogenic Congenital blindness; Absent speech; Muscular hypotonia 2020-02-24 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4_MOD,PM2. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199288 SCV001370365 pathogenic Rod-cone dystrophy; Blurred vision; Visual field defect 2019-06-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.