ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1229G>T (p.Cys410Phe)

gnomAD frequency: 0.00232  dbSNP: rs138729161
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160280 SCV002411039 benign not provided 2021-03-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002160280 SCV003917887 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ALOX12B: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002160280 SCV005251580 benign not provided criteria provided, single submitter not provided
GeneDx RCV002160280 SCV005325417 uncertain significance not provided 2024-02-26 criteria provided, single submitter clinical testing Observed in the apparent homozygous state in a patient from the published literature with congenital ichthyosis, but this individual was also noted to have a potentially causative variant in another gene (PMID: 28544027); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28544027)
PreventionGenetics, part of Exact Sciences RCV003903434 SCV004725494 benign ALOX12B-related disorder 2024-01-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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