Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000003319 | SCV000485145 | pathogenic | Alkaptonuria | 2015-12-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000003319 | SCV000937129 | pathogenic | Alkaptonuria | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp153Glyfs*26) in the HGD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HGD are known to be pathogenic (PMID: 12501223, 19862842). This variant is present in population databases (rs397515346, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with alkaptonuria (PMID: 9154114, 19862842). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3169). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000003319 | SCV002810381 | pathogenic | Alkaptonuria | 2021-12-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003319 | SCV000023477 | pathogenic | Alkaptonuria | 1997-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000003319 | SCV000086745 | not provided | Alkaptonuria | no assertion provided | literature only | 1 of 4 founder variants in the Slovak population | |
Department Of Human Genetics, |
RCV000003319 | SCV004098951 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:9154114. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00042). |