ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys)

gnomAD frequency: 0.00001  dbSNP: rs368323729
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
GeneDx RCV001773594 SCV001992070 uncertain significance not provided 2019-02-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Another missense variant in the same residue (R499H) has been reported in association with autosomal recessive congenital ichthyosis (Buckova et al., 2016) Buckova et al. (2016) Br. J. Dermatol. 174 (2):405-7 (PMID: 25998749); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236767 SCV005886958 likely pathogenic Lamellar ichthyosis 2025-01-28 criteria provided, single submitter clinical testing Variant summary: ALOX12B c.1495C>T (p.Arg499Cys) results in a non-conservative amino acid change located in the Lipoxygenase iron-binding catalytic domain (IPR013819) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251384 control chromosomes. c.1495C>T has been reported in the literature in individuals (including homozygous) affected with autosomal recessive congenital ichthyosis (example: Chiramel_2022, Hotz_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36003334, 35412663, 33435499). ClinVar contains an entry for this variant (Variation ID: 995748). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV001289957 SCV001477967 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 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.