Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000055782 | SCV000220739 | pathogenic | Alkaptonuria | 2014-09-29 | criteria provided, single submitter | literature only | |
Invitae | RCV000055782 | SCV000963995 | pathogenic | Alkaptonuria | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 120 of the HGD protein (p.Cys120Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with alkaptonuria (PMID: 12114497, 19862842). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 65578). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000055782 | SCV002805389 | pathogenic | Alkaptonuria | 2022-04-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000055782 | SCV000086744 | not provided | Alkaptonuria | no assertion provided | literature only | Founder variant in the Dominican Republic | |
Department Of Human Genetics, |
RCV000055782 | SCV004101016 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:12114497. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00029). |