Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482282 | SCV000567775 | pathogenic | not provided | 2015-08-26 | criteria provided, single submitter | clinical testing | The Y89D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (Y89H, N86D and F95L) have been reported in the Human Gene Mutation Database in association with galactosemia (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret Y89D to be a pathogenic variant. |
Eurofins Ntd Llc |
RCV000482282 | SCV000854788 | pathogenic | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330397 | SCV004037674 | uncertain significance | not specified | 2023-08-29 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.265T>G (p.Tyr89Asp) results in a non-conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, N-terminal (IPR005849) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251492 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.265T>G in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Both submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Mayo Clinic Laboratories, |
RCV000482282 | SCV004226583 | likely pathogenic | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | PP3, PP4, PM2, PS4_moderate |
Revvity Omics, |
RCV003485523 | SCV004235108 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-02-03 | criteria provided, single submitter | clinical testing |