ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) (rs137852775)

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Total submissions: 4
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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 2018-12-21 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with trifunctional protein deficiency (PMID: 9739053). ClinVar contains an entry for this variant (Variation ID: 8737). Loss-of-function variants in HADHA are known to be pathogenic (PMID: 7738175, 21103935, 21549624, 22459206). For these reasons, this variant has been classified as Pathogenic.
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

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