Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000726020 | SCV000341275 | pathogenic | not provided | 2016-04-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000022052 | SCV000798041 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022052 | SCV000938537 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2018-10-23 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with asparagine at codon 34 of the GALT protein (p.Tyr34Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another GALT variant in an individual affected with classic galactosemia, and has been shown on the opposite chromosome (in trans) from a pathogenic variant in an affected individual (PMID: 22461411, 25592817). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 25125). Experimental studies have shown that this missense change impairs enzyme activity (PMID: 22461411, 25592817). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000022052 | SCV001137801 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Research and Development, |
RCV000022052 | SCV000042727 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2012-12-04 | no assertion criteria provided | clinical testing | Converted during submission to Pathogenic. |