Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000179722 | SCV000232016 | uncertain significance | not provided | 2015-09-25 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
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. |