Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022167 | SCV000052471 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Pathogenic. |
Eurofins Ntd Llc |
RCV000185918 | SCV000110069 | pathogenic | not provided | 2016-05-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000185918 | SCV000238871 | pathogenic | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10399107, 25124065, 17876724, 27005423, 22975760, 20008339, 10960497, 24973740, 22693313, 17884932, 17079880, 16540753, 24045215, 27415407, 24718839, 11261429, 10408771, 29261178, 30172461, 31589614, 22743281, 34030713) |
Center for Pediatric Genomic Medicine, |
RCV000185918 | SCV000281374 | pathogenic | not provided | 2015-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022167 | SCV000952487 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 209 of the GALT protein (p.Tyr209Cys). This variant is present in population databases (rs111033744, gnomAD 0.003%). This missense change has been observed in individual(s) with galactosemia (PMID: 10399107, 11397328, 16540753). ClinVar contains an entry for this variant (Variation ID: 25231). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALT protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GALT function (PMID: 22743281). This variant disrupts the p.Tyr209 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 10399107), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000022167 | SCV001163243 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | criteria provided, single submitter | clinical testing | ||
Myriad Genetics, |
RCV000022167 | SCV001193851 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-12-13 | criteria provided, single submitter | clinical testing | NM_000155.3(GALT):c.626A>G(Y209C) is classified as likely pathogenic in the context of galactosemia. Sources cited for classification include the following: PMID 12595586, 10960497, 22693313, 11261429, 10399107 and 22743281. Classification of NM_000155.3(GALT):c.626A>G(Y209C) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Revvity Omics, |
RCV000022167 | SCV002024170 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-02-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000022167 | SCV002803322 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000022167 | SCV000147998 | not provided | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | no assertion provided | literature only | Severe classic pathogenic variant | |
Natera, |
RCV001831600 | SCV002085223 | pathogenic | Galactosemia | 2017-03-17 | no assertion criteria provided | clinical testing |