ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)

gnomAD frequency: 0.00001  dbSNP: rs1187839124
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671115 SCV000796060 likely pathogenic Retinitis pigmentosa 26 2017-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671115 SCV000894245 likely pathogenic Retinitis pigmentosa 26 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000779293 SCV000915875 likely pathogenic Retinitis pigmentosa 2024-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794851 SCV000934284 pathogenic not provided 2025-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg461*) in the CERKL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CERKL are known to be pathogenic (PMID: 14681825, 23591405, 24043777). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 28559085). ClinVar contains an entry for this variant (Variation ID: 555316). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074698 SCV001240291 pathogenic Retinal dystrophy 2019-04-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000794851 SCV001248800 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000794851 SCV001447690 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000671115 SCV004211593 pathogenic Retinitis pigmentosa 26 2023-12-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074698 SCV005070295 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671115 SCV001463762 pathogenic Retinitis pigmentosa 26 2020-09-16 no assertion criteria provided clinical testing

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.