ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys)

dbSNP: rs768093512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699275 SCV005204921 uncertain significance not specified 2024-06-26 criteria provided, single submitter clinical testing Variant summary: ALOX12B c.1594G>A (p.Glu532Lys) results in a conservative amino acid change located in the Lipoxygenase, C-terminal domain (IPR013819) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251490 control chromosomes. c.1594G>A has been reported in the literature in individuals affected with Lamellar Ichthyosis (examples: Hotz_2021,Hake_2021). These data indicate that the variant may 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: 33435499, 34908195). ClinVar contains an entry for this variant (Variation ID: 995749). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV001289958 SCV001477968 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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