Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482754 | SCV000568700 | pathogenic | not provided | 2017-02-20 | criteria provided, single submitter | clinical testing | The W300X nonsense variant has been observed in two individuals with classic galactosemia who were also heterozygous for another variant in the GALT gene (Boutron et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret W300X to be a pathogenic variant. |
Invitae | RCV001223654 | SCV001395811 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-04-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 420114). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for GALT-related disease (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp300*) 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). |
Mayo Clinic Laboratories, |
RCV000482754 | SCV002525793 | pathogenic | not provided | 2021-06-29 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP4 |