ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2020dup (p.Gln674fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002909387 SCV003257187 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2022-06-04 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 HADHA-related conditions. This sequence change creates a premature translational stop signal (p.Gln674Profs*11) in the HADHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADHA are known to be pathogenic (PMID: 7738175, 21103935, 21549624, 22459206). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV004571824 SCV005059671 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005028020 SCV005651670 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 2024-04-09 criteria provided, single submitter clinical testing

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