ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro)

dbSNP: rs1977081175
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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 RCV005057216 SCV005726905 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing Variant summary: ALOX12B c.1369T>C (p.Ser457Pro) results in a non-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 benign effect of the variant on protein function. The variant was absent in 224966 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1369T>C has been reported in the literature in at least two compound heterozygous individuals affected with Lamellar Ichthyosis (e.g. Hotz_2021, Diociaiuti_2024). These reports do not provide unequivocal conclusions about association of the variant with Lamellar Ichthyosis. 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: 38588653, 33435499). ClinVar contains an entry for this variant (Variation ID: 995745). Based on the evidence outlined above, the variant was classified as uncertain significance.
Institute for Human Genetics, University Medical Center Freiburg RCV001289954 SCV001477961 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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