Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000668077 | SCV000792622 | likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2017-07-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000668077 | SCV004191798 | likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2022-08-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003767960 | SCV004578931 | pathogenic | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2023-05-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552755). This variant has not been reported in the literature in individuals affected with HADHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly44Trpfs*12) 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). |