ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)

gnomAD frequency: 0.00001  dbSNP: rs1243531358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986277 SCV001135218 likely pathogenic UDPglucose-4-epimerase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986277 SCV002114086 uncertain significance UDPglucose-4-epimerase deficiency 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 95 of the GALE protein (p.Gly95Asp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with galactose epimerase deficiency (PMID: 27604308). ClinVar contains an entry for this variant (Variation ID: 801458). 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: "Deleterious"; PolyPhen-2: "Probably 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.

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