Submissions for variant NM_000155.4(GALT):c.611G>A (p.Arg204Gln) (rs111033740)

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Total submissions: 2

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

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