Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795441 | SCV000934905 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2020-01-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing the majority of exons 1-11 of the GALT gene, though a small portion of exon 8 is retained. It is expected to result in an absent or disrupted protein product. This particular deletion has been reported in individuals affected with galactosemia (PMID: 17079880), and other deletions of the entire GALT sequence have also been reported in affected individuals (PMID: 15841485, 11286505). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). For these reasons, this variant has been classified as Pathogenic. |