Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000723539 | SCV000331278 | uncertain significance | not provided | 2015-09-08 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000022098 | SCV000695691 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2016-08-23 | criteria provided, single submitter | clinical testing | Variant summary: The GALT c.379A>G (p.Lys127Glu) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a damaging outcome for this variant. This variant is located in the HIT-like domain (InterPro). Predicted structural consequences of this variant is misfolding of the protein (Facchiano_2010, McCorvie_2016). This variant was absent in 121412 control chromosomes. This variant is widely reported as pathogenic variant causing galactosemia with consistent patient and functional data. In addition, multiple reputable databases classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic. |
| Invitae | RCV000022098 | SCV000830435 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 127 of the GALT protein (p.Lys127Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with galactosemia and/or Galactosemia including one with the Duarte allele and one where the variant is observed on the opposite chromosome (in trans) from a pathogenic variant (PMID: 11397328, 22870861, 31954591; Invitae; http://www.arup.utah.edu/database/GALT/GALT_display.php). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25167). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000022098 | SCV004198552 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-02-13 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000022098 | SCV000798380 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2018-03-09 | no assertion criteria provided | clinical testing |