ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.2T>G (p.Met1Arg)

gnomAD frequency: 0.00001  dbSNP: rs1187991259
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797385 SCV000936939 pathogenic not provided 2023-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CERKL protein in which other variant(s) (p.Cys125Trp) have been determined to be pathogenic (PMID: 20554613, 24498393, 29068140). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 643636). Disruption of the initiator codon has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 31456290; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the CERKL mRNA. The next in-frame methionine is located at codon 206.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002944 SCV001160979 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV001825560 SCV002076199 likely pathogenic Retinitis pigmentosa 26 2020-11-29 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.