ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.64del (p.Ala22fs)

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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 RCV003621081 SCV004433719 pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HADH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala22Profs*4) in the HADH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADH are known to be pathogenic (PMID: 8825408).

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