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

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000723397	SCV000330954	pathogenic	not provided	2015-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV000022163	SCV000820168	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2019-12-09	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, 11397328, 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). This variant disrupts the p.Arg201 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 22461411), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV000022163	SCV001163241	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase		criteria provided, single submitter	clinical testing
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.
Counsyl	RCV000022163	SCV000796864	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-01-04	no assertion criteria provided	clinical testing

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