Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV002254498 | SCV002525756 | likely pathogenic | not provided | 2021-09-02 | criteria provided, single submitter | clinical testing | PM2, PVS1 |
Center for Genomic Medicine, |
RCV003989139 | SCV004805729 | pathogenic | Alkaptonuria | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV003989139 | SCV004848701 | likely pathogenic | Alkaptonuria | 2022-06-30 | criteria provided, single submitter | clinical testing | The p.Glu178X in HGD has not been previously reported in individuals with alkaptonuria and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 178, which is predicted to lead to a truncated or absent protein. Loss of function of the HGD gene is an established disease mechanism in autosomal recessive alkaptonuria. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive alkaptonuria. ACMG/AMP criteria applied: PVS1, PM2_Supporting. |
Prevention |
RCV003943328 | SCV004767351 | likely pathogenic | HGD-related disorder | 2023-10-31 | no assertion criteria provided | clinical testing | The HGD c.532G>T variant is predicted to result in premature protein termination (p.Glu178*). To our knowledge, this variant has not been reported the literature or a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in HGD are expected to be pathogenic. This variant is interpreted as likely pathogenic. |