ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)

gnomAD frequency: 0.00001  dbSNP: rs397514527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032737 SCV000407403 likely pathogenic Autosomal recessive congenital ichthyosis 2 2017-04-28 criteria provided, single submitter clinical testing The ALOX12B c.1294C>T (p.Arg432Ter) variant is a stop-gained variant. The p.Arg432Ter variant has been reported in two studies and identified in three individuals with congenital ichthyosis in a compound heterozygous state, two of whom were related (Eckl et al. 2005; Akiyama et al. 2010). The p.Arg432Ter variant was absent from 250 ethnically-matched controls and is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Due to the potential impact of stop-gained variants and limited evidence, the p.Arg432Ter variant is classified as likely pathogenic for congenital ichthyosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GeneDx RCV000760415 SCV000890292 pathogenic not provided 2018-11-06 criteria provided, single submitter clinical testing The R432X pathogenic variant in the ALOX12B gene has been reported previously either in the homozygous state or in combination with another ALOX12B variant in several individuals with congenital ichthyosis (Eckl et al., 2005; Kurban et al., 2010; Buckova et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R432X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R432X as a pathogenic variant.
OMIM RCV000032737 SCV000056501 pathogenic Autosomal recessive congenital ichthyosis 2 2005-10-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000032737 SCV001477963 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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