ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.140A>C (p.Glu47Ala)

gnomAD frequency: 0.00013  dbSNP: rs367768055
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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 RCV000638210 SCV000759696 uncertain significance UDPglucose-4-epimerase deficiency 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 47 of the GALE protein (p.Glu47Ala). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is present in population databases (rs367768055, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with GALE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV003411513 SCV004114088 uncertain significance GALE-related disorder 2023-06-17 criteria provided, single submitter clinical testing The GALE c.140A>C variant is predicted to result in the amino acid substitution p.Glu47Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-24125202-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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