ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1689+2T>G

dbSNP: rs1574602991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986600 SCV001135632 pathogenic Mitochondrial trifunctional protein deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869339 SCV002238915 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-12-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the HADHA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (PMID: 17143551, 27014569). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 801655). Studies have shown that disruption of this splice site results in skipping of exon 16, but is expected to preserve the integrity of the reading-frame (PMID: 17143551). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467541 SCV004191771 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-07-12 criteria provided, single submitter clinical testing

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