Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169542 | SCV000221029 | likely pathogenic | Alkaptonuria | 2015-01-15 | criteria provided, single submitter | literature only | |
Invitae | RCV000169542 | SCV002237055 | pathogenic | Alkaptonuria | 2023-08-25 | 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 189127). This variant is also known as c.509+1G>T. Disruption of this splice site has been observed in individuals with alkaptonuria (PMID: 9529363, 10482952, 25681086). This variant is present in population databases (rs397515518, gnomAD 0.003%). This sequence change affects a donor splice site in intron 5 of the HGD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HGD are known to be pathogenic (PMID: 12501223, 19862842). |
Fulgent Genetics, |
RCV000169542 | SCV002796090 | pathogenic | Alkaptonuria | 2022-01-25 | criteria provided, single submitter | clinical testing | |
Department Of Human Genetics, |
RCV000169542 | SCV004098961 | pathogenic | Alkaptonuria | no assertion criteria provided | research | The variant was originally described in AKU patient in PMID:9529363. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00024). |