ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)

gnomAD frequency: 0.00001  dbSNP: rs137852770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665238 SCV000789327 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851758 SCV002236481 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-08-22 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: 8729). This variant is also known as Q342Stop. This premature translational stop signal has been observed in individual(s) with clinical features of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (PMID: 7846063, 28559085). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln378*) 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).
OMIM RCV000009268 SCV000029486 pathogenic Mitochondrial trifunctional protein deficiency 1995-01-31 no assertion criteria provided literature only

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