Submissions for variant NM_000155.4(GALT):c.602G>A (p.Arg201His) (rs111033735)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000022163	SCV000796864	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-01-04	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000723397	SCV000330954	pathogenic	not provided	2015-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV000022163	SCV000820168	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-02-05	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with histidine at codon 201 of the GALT protein (p.Arg201His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs111033735, ExAC 0.02%). This variant has been observed in combination with other GALT variants in individuals affected with galactose-1-phosphate uridyltransferase deficiency which is specific for Duarte or classic galactosemia (PMID: 20547145, Invitae). ClinVar contains an entry for this variant (Variation ID: 25227). Experimental studies have shown that this missense change causes partial reduction of enzyme activity in vitro (PMID: 11152465). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research and Development, ARUP Laboratories	RCV000022163	SCV000042844	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2012-12-04	no assertion criteria provided	clinical testing	Converted during submission to Pathogenic.