Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726851 | SCV000703632 | pathogenic | not provided | 2016-11-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000595136 | SCV004198555 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000595136 | SCV004627450 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-04-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GALT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln103*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 498560). |
Counsyl | RCV000595136 | SCV000796713 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-12-22 | no assertion criteria provided | clinical testing |