Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022235 | SCV000052479 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Pathogenic. |
Counsyl | RCV000022235 | SCV000220344 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2014-05-22 | criteria provided, single submitter | literature only | |
Baylor Genetics | RCV000022235 | SCV001163249 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000022235 | SCV001222117 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp316*) 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 is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with galactosemia (PMID: 8598637). ClinVar contains an entry for this variant (Variation ID: 25291). For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV001826501 | SCV002085246 | pathogenic | Galactosemia | 2017-12-21 | no assertion criteria provided | clinical testing |