ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT

dbSNP: rs2151837897
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002273242 SCV002557990 uncertain significance Autosomal recessive congenital ichthyosis 3 2020-05-25 criteria provided, single submitter clinical testing A heterozygous splice site variant was identified, NM_021628.2(ALOXE3):c.1559_1562+3dup in intron 12 of 15 of the ALOXE3 gene. This duplication is predicted to cause aberrant splicing in the ALOXE3 gene, potentially affecting protein function. The duplicated region has very low conservation (Phylop UCSC), however in silico software tools predict a potential impact on splicing (NetGene2, Fruit fly, Human Splicing Finder). This variant is present in the gnomAD population database at a frequency of 0.0518% (146 heterozygotes, 0 homozygotes) and it has not been previously observed in clinical cases. Based on information available at the time of curation, this variant has been classified as a VUS.

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