Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507865 | SCV000603800 | uncertain significance | not specified | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000022280 | SCV000800504 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022280 | SCV000965232 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2018-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 378 of the GALT protein (p.Ile378Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs111033819, ExAC 0.02%). This variant has been observed in an individual affected with galactosemia (PMID: 11678552). ClinVar contains an entry for this variant (Variation ID: 25334). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Illumina Clinical Services Laboratory, |
RCV000022280 | SCV001331420 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Research and Development, |
RCV000022280 | SCV000042965 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2012-12-04 | no assertion criteria provided | clinical testing | Converted during submission to Pathogenic. |