Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000723558 | SCV000110070 | pathogenic | not provided | 2012-11-19 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000022170 | SCV000220970 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2014-12-18 | criteria provided, single submitter | literature only | |
| Labcorp Genetics |
RCV000022170 | SCV002214759 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2020-12-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln212*) 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 (ExAC no frequency). This variant has been observed in individual(s) with galactosemia (PMID: 8522334). ClinVar contains an entry for this variant (Variation ID: 25234). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022170 | SCV002819759 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-12-23 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.634C>T (p.Gln212X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251472 control chromosomes (gnomAD). c.634C>T has been reported in the literature in compound heterozygous state in multiple individuals affected with Galactosemia (e.g. Gathof_1995, Yuzyuk_2018), where the complete lack of enzyme activity was noted in patient derived red blood cells. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV000022170 | SCV004198524 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-03-20 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV000723558 | SCV004226594 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | PP4, PM2_moderate, PM3, PVS1 |