ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del)

dbSNP: rs749617913
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575817 SCV001802886 pathogenic not provided 2024-02-26 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: Silva_2018, 36964972, 34851365)
Baylor Genetics RCV004558630 SCV005049339 likely pathogenic Autosomal recessive congenital ichthyosis 2 2023-12-29 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004558630 SCV005373640 uncertain significance Autosomal recessive congenital ichthyosis 2 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.406_408del(p.Glu136del) in ALOX12B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.406_408del variant is reported with 0.003% allele frequency in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Pathogenic. However, no details are available for independent assessment.This p.Glu136del causes deletion of amino acid Glutamic Acid at position 136. For these reasons, this variant has been classified as Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001575817 SCV005814164 uncertain significance not provided 2024-11-19 criteria provided, single submitter clinical testing This variant, c.406_408del, results in the deletion of 1 amino acid(s) of the ALOX12B protein (p.Glu136del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749617913, gnomAD 0.01%). This variant has been observed in individual(s) with ichthyosis (PMID: 34851365, 36964972; internal data). ClinVar contains an entry for this variant (Variation ID: 1207726). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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