ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)

dbSNP: rs2134885779
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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 RCV001382070 SCV001580690 pathogenic not provided 2025-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg325*) in the HMBS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the HMBS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with acute intermittent porphyria (PMID: 8565205, 18627369; internal data). ClinVar contains an entry for this variant (Variation ID: 1070048). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002246365 SCV002516547 pathogenic Acute intermittent porphyria 2022-05-04 criteria provided, single submitter clinical testing

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