ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)

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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 RCV003468326 SCV004191818 pathogenic Mitochondrial trifunctional protein deficiency 2023-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468326 SCV004664326 pathogenic Mitochondrial trifunctional protein deficiency 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser70*) in the HADHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADHB are known to be pathogenic (PMID: 9259266, 12754706). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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