ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)

dbSNP: rs137852775
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589800 SCV000695943 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The HADHA c.871C>T (p.Arg291X) variant results in a premature termination codon, predicted to cause a truncated or absent HADHA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 121364 control chromosomes. Multiple publications have cited the variant in affected individuals, along with functional studies indicating no detectable protein levels were observed (Ibdah_1998). In addition, a reputable database classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Invitae RCV000819036 SCV000959677 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg291*) 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). This premature translational stop signal has been observed in individuals with trifunctional protein deficiency (PMID: 9739053). ClinVar contains an entry for this variant (Variation ID: 8737). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000589800 SCV004191797 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2022-10-17 criteria provided, single submitter clinical testing
OMIM RCV000009276 SCV000029494 pathogenic Mitochondrial trifunctional protein deficiency 1998-09-15 no assertion criteria provided literature only
Counsyl RCV000589800 SCV001132410 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2015-04-08 no assertion criteria provided clinical testing
Natera, Inc. RCV000589800 SCV002076519 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-12-27 no assertion criteria provided clinical testing

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