ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)

dbSNP: rs62640570
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001853068 SCV002228964 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Meckel syndrome (PMID: 17564974). ClinVar contains an entry for this variant (Variation ID: 56735). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ile1059*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).
Fulgent Genetics, Fulgent Genetics RCV002504950 SCV002813828 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466924 SCV004216534 pathogenic Bardet-Biedl syndrome 14 2024-02-16 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050148 SCV000082558 probable-pathogenic Meckel syndrome, type 4 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.