ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.304_307dup (p.Ser103fs)

gnomAD frequency: 0.00001  dbSNP: rs2477217032
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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 RCV003510094 SCV004321126 pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-08-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HADH-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser103Asnfs*39) 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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