Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000319347 | SCV000340778 | uncertain significance | not provided | 2016-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022243 | SCV001396642 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-09-26 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs111033795, gnomAD 0.003%). This missense change has been observed in individual(s) with galactosemia (PMID: 10220154, 10399107, 11397328, 16765930, 17876724, 25268296). ClinVar contains an entry for this variant (Variation ID: 25298). 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. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 320 of the GALT protein (p.Ala320Thr). |
Baylor Genetics | RCV000022243 | SCV004198493 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000022243 | SCV000486401 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2016-05-25 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001831603 | SCV002085247 | pathogenic | Galactosemia | 2017-03-17 | no assertion criteria provided | clinical testing |