Submissions for variant NM_000155.4(GALT):c.940A>G (p.Asn314Asp) (rs2070074)

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000078243	SCV000110081	other	not provided	2018-02-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000078243	SCV000238875	pathogenic	not provided	2018-08-24	criteria provided, single submitter	clinical testing	The N314D variant has been reported in various populations with a frequency ranging from 1% to 13% by the NHLBI ESP Exome Sequencing Project and the 1000 Genomes Project. When N314D is present on the same GALT allele (in cis) as the c.-119_116delGTCA promoter variant (Duarte-2 variant), the result is an impaired regulatory domain of the GALT enzyme and approximately 50% of normal galactose-1-phosphate uridyltransferase (GALT) activity (Bosch et al., 2005). Newborns who are compound heterozygotes for the Duarte-2 variant (D variant) and a variant associated with classic galactosemia (G variant) are considered to have Duarte-2 variant galactosemia or D/G galactosemia which may be identified by newborn screening programs and is associated with approximately 50% of control galactosyltransferase activity, on average (Berry, 2014).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000078243	SCV000281474	pathogenic	not provided	2014-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000243200	SCV000302734	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000309989	SCV000479769	likely benign	Galactosemia	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000078243	SCV000603779	benign	not provided	2017-06-11	criteria provided, single submitter	clinical testing
Counsyl	RCV000022233	SCV000800785	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2017-09-11	criteria provided, single submitter	clinical testing
Mendelics	RCV000022233	SCV001137809	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2019-05-28	criteria provided, single submitter	clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill	RCV000022233	SCV001251539	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase		criteria provided, single submitter	research	Four variants in the GALT gene often occur together on the same chromosome (in cis) as part of a haplotype, which is referred to as the Duarte 2 variant: (c.378-27G>C, c.507+62G>A, c.508-24G>A, c.940A>G). Individuals that inherit the Duarte 2 variant from one parent and a more severe GALT variant from the other parent are affected with Duarte galactosemia, and typically have milder features of galactosemia (PMID: 25473725; 24718839; 19224951; 10424825).
OMIM	RCV000003797	SCV000023962	benign	GALT POLYMORPHISM (DUARTE, D2)	2009-05-01	no assertion criteria provided	literature only
Research and Development, ARUP Laboratories	RCV000022233	SCV000042916	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2012-12-04	no assertion criteria provided	clinical testing	Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America	RCV000022233	SCV000052477	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2015-10-06	no assertion criteria provided	clinical testing
GeneReviews	RCV000022233	SCV000257440	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2014-09-23	no assertion criteria provided	literature only
Division of Human Genetics,Children's Hospital of Philadelphia	RCV000022233	SCV000536727	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2016-06-10	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000022233	SCV000734696	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase		no assertion criteria provided	clinical testing