Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002602800 | SCV003497492 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-05-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu240Serfs*25) in the GALT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant has not been reported in the literature in individuals affected with GALT-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV002602800 | SCV004198553 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-02-04 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003481396 | SCV004226595 | pathogenic | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing | PP4, PM2, PVS1 |