ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1158dup (p.Tyr387fs)

gnomAD frequency: 0.00007  dbSNP: rs759653224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893456 SCV002176899 pathogenic not provided 2021-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr387Leufs*21) in the ALOX12B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALOX12B are known to be pathogenic (PMID: 16116617, 23621129, 31046801). This variant is present in population databases (rs759653224, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALOX12B-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005023403 SCV005652826 likely pathogenic Autosomal recessive congenital ichthyosis 2 2024-04-30 criteria provided, single submitter clinical testing

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