ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.882dup (p.Ala295fs)

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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 RCV002600901 SCV002946169 pathogenic Mitochondrial trifunctional protein deficiency 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala295Cysfs*19) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1912480). For these reasons, this variant has been classified as Pathogenic.

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