Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV002254504 | SCV002525796 | pathogenic | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | PS3, PS4_moderate, PM2, PP3, PP4 |
| Labcorp Genetics |
RCV003094177 | SCV003508184 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-09-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALT protein function. ClinVar contains an entry for this variant (Variation ID: 1691431). This missense change has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 1427861, 20863731). This variant is present in population databases (rs111033809, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 334 of the GALT protein (p.Lys334Arg). |
| Baylor Genetics | RCV003094177 | SCV005058858 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-03-29 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003094177 | SCV005887868 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2025-01-29 | criteria provided, single submitter | clinical testing | Variant summary: GALT c.1001A>G (p.Lys334Arg) results in a conservative amino acid change located in the Galactose-1-phosphate uridyl transferase, C-terminal domain (IPR005850) of the encoded protein sequence. Four 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 251482 control chromosomes. c.1001A>G has been reported in the literature in compound heterozygous individuals affected with Galactosemia (Li_2011, Leslie_1992, Demirbas_2019). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30718057, 1427861, 20863731). ClinVar contains an entry for this variant (Variation ID: 1691431). Based on the evidence outlined above, the variant was classified as likely pathogenic. |