Submissions for variant NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) (rs111033836)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000022052	SCV000798041	uncertain significance	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-02-20	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000726020	SCV000341275	pathogenic	not provided	2016-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV000022052	SCV000938537	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-10-23	criteria provided, single submitter	clinical testing	This sequence change replaces tyrosine with asparagine at codon 34 of the GALT protein (p.Tyr34Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another GALT variant in an individual affected with classic galactosemia, and has been shown on the opposite chromosome (in trans) from a pathogenic variant in an affected individual (PMID: 22461411, 25592817). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 25125). Experimental studies have shown that this missense change impairs enzyme activity (PMID: 22461411, 25592817). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories	RCV000022052	SCV000042727	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2012-12-04	no assertion criteria provided	clinical testing	Converted during submission to Pathogenic.