ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)

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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 RCV003002554 SCV003298591 uncertain significance Fanconi-Bickel syndrome 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 45 of the SLC2A2 protein (p.Val45Asp). This variant is present in population databases (rs149108283, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SLC2A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2083468). 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 expected to disrupt SLC2A2 protein function with a positive predictive value of 95%. 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.
Ambry Genetics RCV003002553 SCV003685133 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The c.134T>A (p.V45D) alteration is located in exon 3 (coding exon 3) of the SLC2A2 gene. This alteration results from a T to A substitution at nucleotide position 134, causing the valine (V) at amino acid position 45 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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