ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp)

gnomAD frequency: 0.00001  dbSNP: rs764862348
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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 RCV003317474 SCV004020804 uncertain significance not specified 2023-06-03 criteria provided, single submitter clinical testing Variant summary: ALOX12B c.1324C>T (p.Arg442Trp) results in a non-conservative amino acid change located in the C-terminal catalytic LOX domain (Akiyama_2010) 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 1.3e-05 in 156902 control chromosomes. c.1324C>T has been reported in the literature as a biallelic compound heterozygous genotype and a homozygous genotype in at-least two individuals affected with features of Lamellar Ichthyosis (example, Diociaiuti_2016, Hotz_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: 20222929, 32253496, 31046801, 26762237, 33435499, 36003334). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV001289919 SCV001477921 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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