Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000723397 | SCV000330954 | pathogenic | not provided | 2015-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022163 | SCV000820168 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 201 of the GALT protein (p.Arg201His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs111033735, ExAC 0.02%). This variant has been observed in combination with other GALT variants in individuals affected with galactose-1-phosphate uridyltransferase deficiency which is specific for Duarte or classic galactosemia (PMID: 20547145, 11397328, Invitae). ClinVar contains an entry for this variant (Variation ID: 25227). Experimental studies have shown that this missense change causes partial reduction of enzyme activity in vitro (PMID: 11152465). This variant disrupts the p.Arg201 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 22461411), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000022163 | SCV001163241 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | criteria provided, single submitter | clinical testing | ||
Research and Development, |
RCV000022163 | SCV000042844 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2012-12-04 | no assertion criteria provided | clinical testing | Converted during submission to Pathogenic. |
Counsyl | RCV000022163 | SCV000796864 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2018-01-04 | no assertion criteria provided | clinical testing |