ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)

dbSNP: rs1977099347
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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 RCV003492244 SCV004241847 likely pathogenic Lamellar ichthyosis 2023-12-05 criteria provided, single submitter clinical testing Variant summary: ALOX12B c.1261C>T (p.His421Tyr) 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 was absent in 628162 control chromosomes (gnomAD). c.1261C>T has been reported in the literature in both homozygous and compound heterozygous individuals affected with Lamellar Ichthyosis (e.g., Diociaiuti_2016, Lesueur_2007). 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: 26762237, 17139268). One submitter has reported clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV001289944 SCV001477948 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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