Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686241 | SCV000813751 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-10-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg123*) 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 individuals with galactosemia (PMID: 22944367, 29252199). ClinVar contains an entry for this variant (Variation ID: 203734). For these reasons, this variant has been classified as Pathogenic. |
Eurofins Ntd Llc |
RCV000727565 | SCV000854803 | pathogenic | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000686241 | SCV001554562 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2021-03-22 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.367C>T (p.Arg123X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251576 control chromosomes (gnomAD and publication data). c.367C>T has been reported in the literature in multiple individuals affected with Galactosemia, including one homozygote (Boutron_2012, Ramadza_2018). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Baylor Genetics | RCV000686241 | SCV004198516 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276263 | SCV001462312 | pathogenic | Galactosemia | 2020-09-16 | no assertion criteria provided | clinical testing |