Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000003316 | SCV000485141 | likely pathogenic | Alkaptonuria | 2015-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000003316 | SCV000833062 | pathogenic | Alkaptonuria | 2023-08-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HGD protein function. ClinVar contains an entry for this variant (Variation ID: 3166). This missense change has been observed in individuals with alkaptonuria (PMID: 8782815, 9529363, 10482952, 10970188, 19862842, 21720873). It is commonly reported in individuals of Central European ancestry (PMID: 9529363, 21720873). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 300 of the HGD protein (p.Val300Gly). |
OMIM | RCV000003316 | SCV000023474 | pathogenic | Alkaptonuria | 1996-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003316 | SCV000086749 | not provided | Alkaptonuria | no assertion provided | literature only | Frequent missense variant | |
Department Of Human Genetics, |
RCV000003316 | SCV004100991 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:8782815. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00083). |