ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003631668 SCV004411855 uncertain significance Fanconi-Bickel syndrome 2023-01-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 417 of the SLC2A2 protein (p.Pro417Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC2A2-related conditions. 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 SLC2A2 protein function. This variant disrupts the p.Pro417 amino acid residue in SLC2A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22214819, 22350464, 23986439). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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