ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln)

gnomAD frequency: 0.00003  dbSNP: rs376255193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235029 SCV000953102 uncertain significance Distal hereditary motor neuropathy type 2 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 526 of the FBXO38 protein (p.Arg526Gln). This variant is present in population databases (rs376255193, gnomAD 0.03%). This missense change has been observed in individual(s) with distal hereditary motor neuropathy and juvenile motor neuron disease (PMID: 31420593, 32579787). ClinVar contains an entry for this variant (Variation ID: 656377). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FBXO38 protein function with a negative predictive value of 80%. 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.
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV000812778 SCV001251009 likely pathogenic Neuronopathy, distal hereditary motor, type 2D 2020-03-31 criteria provided, single submitter research

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