ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met)

dbSNP: rs962267153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773593 SCV002002793 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33435499)
Invitae RCV001773593 SCV002937010 pathogenic not provided 2022-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 ALOX12B protein function. ClinVar contains an entry for this variant (Variation ID: 995746). This missense change has been observed in individual(s) with congenital ichthyosis (PMID: 33435499; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 537 of the ALOX12B protein (p.Val537Met).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001289955 SCV003807486 uncertain significance Autosomal recessive congenital ichthyosis 2 2023-01-09 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM3 supporting
Institute for Human Genetics, University Medical Center Freiburg RCV001289955 SCV001477965 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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