ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.769C>G (p.His257Asp)

dbSNP: rs1233776328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001724288 SCV002265211 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 257 of the ALOX12B protein (p.His257Asp). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and aspartic acid. 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 ALOX12B protein function. ClinVar contains an entry for this variant (Variation ID: 995768). This variant has not been reported in the literature in individuals affected with ALOX12B-related conditions. This variant is not present in population databases (ExAC no frequency).
Institute for Human Genetics, University Medical Center Freiburg RCV001289977 SCV001477990 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724288 SCV001952674 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724288 SCV001965301 likely pathogenic not provided no assertion criteria provided clinical testing

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