ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.613+4_613+5del

gnomAD frequency: 0.00001  dbSNP: rs766131721
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
Counsyl RCV000672107 SCV000797172 uncertain significance Retinitis pigmentosa 26 2018-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857209 SCV002259489 uncertain significance not provided 2024-02-17 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the CERKL gene. It does not directly change the encoded amino acid sequence of the CERKL protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs766131721, gnomAD 0.002%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438055). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000672107 SCV004216798 likely pathogenic Retinitis pigmentosa 26 2023-08-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504980 SCV000598882 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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.