ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.2T>C (p.Met1Thr)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV000823214 SCV000964065 pathogenic not provided 2022-02-03 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CERKL mRNA. The next in-frame methionine is located at codon 206. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with CERKL-related disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 665011). 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. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001277038 SCV005655350 pathogenic Retinitis pigmentosa 26 2024-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277038 SCV001463773 likely 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.