ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1A>G (p.Met1Val)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005200794 SCV005835758 likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2024-03-11 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DCLRE1C mRNA. The next in-frame methionine is located at codon 8. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with severe combined immunodeficiency (PMID: 15731174, 24144642, 25917813). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as M1V. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon does not substantially affect DCLRE1C function (PMID: 25917813). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as 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.