ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003863483 SCV004666120 pathogenic Pyruvate dehydrogenase E1-beta deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp178*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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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