Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756198 | SCV000883932 | pathogenic | not provided | 2017-10-11 | criteria provided, single submitter | clinical testing | The GALT c.400delT;p.Trp134fs variant is reported in the medical literature in several individuals, including individuals with classic galactosemia (Bosch 2005, Tyfield 1999, Viggiano 2015). The variant is listed in the ClinVar database (Variation ID: 25171) and in the dbSNP variant database (rs111033689) but not described in the general population-based databases (Exome Variant Server, Genome Aggregation Database). This variant deletes one nucleotide, creating a frameshift, and is predicted to result in a truncated protein or mRNA subject to non-sense mediated decay. Considering available information, this variant is classified as pathogenic. References: Bosch AM et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005 May;25(5):502. Tyfield L et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13(6):417-30. Viggiano E et al. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. Gene. 2015 Apr 1;559(2):112-8. |
Invitae | RCV000022104 | SCV001226150 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-09-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp134Glyfs*4) 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: 25592817). ClinVar contains an entry for this variant (Variation ID: 25171). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000022104 | SCV004198523 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831596 | SCV002085199 | pathogenic | Galactosemia | 2017-12-12 | no assertion criteria provided | clinical testing |