|| common in clinvar
|| harmless ancestral galactosemia variant carrier
|?|| (A;A) (A;G) (G;G) ||28|
|Desc||GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT|
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 2011574] Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
[PMID 8198125] A common mutation associated with the Duarte galactosemia allele.
[PMID 10424825] Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
[PMID 19224951] Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
|| Low clinical importance, Uncertain benign
|| This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).