ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.749del (p.Gly250fs)

dbSNP: rs1570630665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822791 SCV000963608 pathogenic UDPglucose-4-epimerase deficiency 2019-02-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly250Alafs*6) in the GALE gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GALE are known to be pathogenic (PMID: 16301867). This variant has been observed in an individual with clinical features of galactose epimerase deficiency (Invitae). This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV000822791 SCV002807613 likely pathogenic UDPglucose-4-epimerase deficiency 2022-05-20 criteria provided, single submitter clinical testing

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