ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)

dbSNP: rs28940883
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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 RCV000003863 SCV004291759 uncertain significance UDPglucose-4-epimerase deficiency 2023-04-20 criteria provided, single submitter clinical testing 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 not expected to disrupt GALE protein function. 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GALE function (PMID: 9973283, 11117433, 16302980). ClinVar contains an entry for this variant (Variation ID: 3678). This missense change has been observed in individual(s) with galactose epimerase deficiency (PMID: 9538513). This variant is present in population databases (rs28940883, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 103 of the GALE protein (p.Asp103Gly).
OMIM RCV000003863 SCV000024028 pathogenic UDPglucose-4-epimerase deficiency 1998-01-01 no assertion criteria provided literature only

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