Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000179722 | SCV000232016 | uncertain significance | not provided | 2015-09-25 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000779578 | SCV000916257 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2018-03-22 | criteria provided, single submitter | clinical testing | The GALT c.611G>A (p.Arg204Gln) missense variant has been reported in one study in which it was found in one individual diagnosed with classical galactosemia in a compound heterozygous state with the known common pathogenic Duarte-1 allele (Greber-Platzer et al. 1997). The p.Arg204Gln variant was also found in a heterozygous state in the unaffected son and in one control subject (Greber-Platzer et al. 1997). The variant is reported at a frequency of 0.000152 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Arg204Gln variant is classified as a variant of unknown significance but suspicious for pathogenicity for galactosemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Fulgent Genetics, |
RCV000779578 | SCV002787620 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2021-09-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000779578 | SCV003518900 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-07-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 204 of the GALT protein (p.Arg204Gln). This variant is present in population databases (rs111033740, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GALT-related conditions. ClinVar contains an entry for this variant (Variation ID: 198395). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |