ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476734 SCV004203252 likely pathogenic Pyruvate dehydrogenase E1-beta deficiency 2022-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003476734 SCV004354417 pathogenic Pyruvate dehydrogenase E1-beta deficiency 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg71*) in the PDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDHB are known to be pathogenic (PMID: 21914562, 25356417). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PDHB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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