ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.122_123del (p.Gln41fs)

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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 RCV002775492 SCV003024795 pathogenic Pyruvate dehydrogenase E1-beta deficiency 2023-03-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs778727916, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1984417). This variant has not been reported in the literature in individuals affected with PDHB-related conditions. This sequence change creates a premature translational stop signal (p.Gln41Argfs*4) 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).
Baylor Genetics RCV002775492 SCV004203247 likely pathogenic Pyruvate dehydrogenase E1-beta deficiency 2024-01-24 criteria provided, single submitter clinical testing

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