Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV004703373 | SCV005201128 | uncertain significance | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 2024-09-10 | criteria provided, single submitter | clinical testing | The variant c.364_379del (p.(Phe122Glyfs*11)) in exon 5 of the UBTF gene is not found in the gnomAD database and changes the protein sequence at position Phe122 and interrupts the reading frame prematurely. As of yet, truncating variants in the UBTF gene are not a known mechanism of disease, as only one recurrent missense variant in UBTF is unambiguously described as pathogenic (c.628G>A, p.(Glu210Lys); ClinVar Variation ID: 437909). This truncating variant was found to be de novo in our patient, with confirmed maternity and paternity. ACMG criteria used for classification: PS2, PM2_sup. |