ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys)

gnomAD frequency: 0.00001  dbSNP: rs368323729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773594 SCV001992070 uncertain significance not provided 2019-02-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Another missense variant in the same residue (R499H) has been reported in association with autosomal recessive congenital ichthyosis (Buckova et al., 2016) Buckova et al. (2016) Br. J. Dermatol. 174 (2):405-7 (PMID: 25998749); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Institute for Human Genetics, University Medical Center Freiburg RCV001289957 SCV001477967 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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