Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000078243 | SCV000110081 | other | not provided | 2018-02-13 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV000078243 | SCV000281474 | pathogenic | not provided | 2014-11-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000243200 | SCV000302734 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000309989 | SCV000479769 | likely benign | Galactosemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
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, |
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, |
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 | |
Gene |
RCV000022233 | SCV000257440 | benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2014-09-23 | no assertion criteria provided | literature only | |
Division of Human Genetics, |
RCV000022233 | SCV000536727 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2016-06-10 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000022233 | SCV000734696 | benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | no assertion criteria provided | clinical testing |