ClinVar Miner

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

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Total submissions: 20
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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 benign not provided 2021-07-15 criteria provided, single submitter clinical testing Observed on 25366/282804 (9%) alleles including multiple unrelated homozygous individuals in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 2011574, 25592817, 9222760, 27005423, 8892021, 19581158, 21228398, 11152465, 22963887, 25614870, 8198125, 15841485, 25087612, 16540753, 31028937, 31194252, 19224951)
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).
Mayo Clinic Laboratories, Mayo Clinic RCV000078243 SCV001713485 pathogenic not provided 2021-03-23 criteria provided, single submitter clinical testing
Invitae RCV000022233 SCV001720274 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000022233 SCV001737351 likely benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-06-10 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
LifeCell International Pvt. Ltd RCV000022233 SCV001478376 benign Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078243 SCV001552853 uncertain significance not provided no assertion criteria provided clinical testing

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