Total submissions: 2
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, |
RCV000822791 | SCV002807613 | likely pathogenic | UDPglucose-4-epimerase deficiency | 2022-05-20 | criteria provided, single submitter | clinical testing |