ClinVar Miner

Submissions for variant NM_002150.3(HPD):c.613C>T (p.Gln205Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003077399 SCV003463119 pathogenic Hawkinsinuria; Tyrosinemia type III 2023-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln205*) in the HPD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPD are known to be pathogenic (PMID: 10942115, 23036342). This variant is present in population databases (rs762267460, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HPD-related conditions. ClinVar contains an entry for this variant (Variation ID: 2153024). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003077399 SCV005631938 likely pathogenic Hawkinsinuria; Tyrosinemia type III 2024-03-13 criteria provided, single submitter clinical testing

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