ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.353-2A>G

gnomAD frequency: 0.00001  dbSNP: rs775524204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000504373 SCV000588381 pathogenic Autosomal recessive congenital ichthyosis 2 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766860 SCV004631608 pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 437467). Disruption of this splice site has been observed in individuals with congenital ichthyosis (PMID: 33435499). This variant is present in population databases (rs775524204, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 2 of the ALOX12B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALOX12B are known to be pathogenic (PMID: 16116617, 23621129, 31046801).
Institute for Human Genetics, University Medical Center Freiburg RCV000504373 SCV001477382 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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