ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.