ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro)

gnomAD frequency: 0.00004  dbSNP: rs142781546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773591 SCV001992898 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31642606)
Invitae RCV001773591 SCV003277667 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALOXE3 protein function. ClinVar contains an entry for this variant (Variation ID: 995467). This variant is also known as c.1427A>C. This missense change has been observed in individual(s) with clinical features of congenital ichthyosis (PMID: 31642606). This variant is present in population databases (rs142781546, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 344 of the ALOXE3 protein (p.Gln344Pro).
Institute for Human Genetics, University Medical Center Freiburg RCV001289497 SCV001477369 pathogenic Autosomal recessive congenital ichthyosis 3 2021-01-07 no assertion criteria provided clinical testing

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