ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.680+1G>A

gnomAD frequency: 0.00004  dbSNP: rs764781178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262620 SCV001440557 pathogenic Autosomal recessive congenital ichthyosis 3 2019-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282503 SCV002570928 pathogenic Lamellar ichthyosis 2022-07-20 criteria provided, single submitter clinical testing Variant summary: ALOXE3 c.680+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Three predict the variant abolishes the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251492 control chromosomes (gnomAD). c.680+1G>A has been reported in the literature in two homozygous individuals affected with congenital ichthyoses (Hotz_2021 and Mohamad_2021). These data indicate that the variant is very likely to be associated with disease. Two submitters provided clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV001262620 SCV001477362 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided clinical testing

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