ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.796-1G>T

gnomAD frequency: 0.00001  dbSNP: rs779828095
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324846 SCV000332972 pathogenic not provided 2015-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001782773 SCV002025244 likely pathogenic UDPglucose-4-epimerase deficiency 2021-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001782773 SCV002780656 likely pathogenic UDPglucose-4-epimerase deficiency 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782773 SCV004676655 likely pathogenic UDPglucose-4-epimerase deficiency 2023-09-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs779828095, gnomAD 0.002%). This sequence change affects an acceptor splice site in intron 9 of the GALE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALE are known to be pathogenic (PMID: 16301867). This variant has not been reported in the literature in individuals affected with GALE-related conditions. ClinVar contains an entry for this variant (Variation ID: 281922). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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