Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035668 | SCV001199002 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2020-06-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GALT protein. Other variant(s) that disrupt this region (p.Thr350Profs*9) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This sequence change results in a premature translational stop signal in the GALT gene (p.Gln344*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acids of the GALT protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with galactosemia (PMID: 22944367). ClinVar contains an entry for this variant (Variation ID: 834891). |