Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000022125 | SCV000220506 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2014-07-11 | criteria provided, single submitter | literature only | |
Invitae | RCV000022125 | SCV001236618 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-05-12 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 168 of the GALT protein (p.Val168Leu). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GALT function (PMID: 22461411). 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. ClinVar contains an entry for this variant (Variation ID: 25189). This missense change has been observed in individual(s) with galactosemia (PMID: 22461411, 24045215). This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV000022125 | SCV004198496 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826494 | SCV002085213 | likely pathogenic | Galactosemia | 2021-08-26 | no assertion criteria provided | clinical testing |