ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.532G>T (p.Glu178Ter)

dbSNP: rs1941184654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002254498 SCV002525756 likely pathogenic not provided 2021-09-02 criteria provided, single submitter clinical testing PM2, PVS1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989139 SCV004805729 pathogenic Alkaptonuria 2024-03-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.
PreventionGenetics, part of Exact Sciences 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.

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