ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.529-22_535dup

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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 RCV002750795 SCV003010075 uncertain significance UDPglucose-4-epimerase deficiency 2022-06-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with GALE-related conditions. This sequence change falls in intron 6 of the GALE gene. It does not directly change the encoded amino acid sequence of the GALE protein. This variant is not present in population databases (gnomAD no frequency).

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