ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.728A>C (p.His243Pro)

gnomAD frequency: 0.00002  dbSNP: rs143015594
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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 RCV001374320 SCV001571136 uncertain significance UDPglucose-4-epimerase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 243 of the GALE protein (p.His243Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is present in population databases (rs143015594, ExAC 0.005%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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