Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723393 | SCV000232013 | likely pathogenic | not provided | 2015-05-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000179721 | SCV000746383 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000179721 | SCV000755880 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-10-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with GALT-related disease. ClinVar contains an entry for this variant (Variation ID: 198394). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 191 of the GALT protein (p.Ala191Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. |