ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1690-17_1690-2del

dbSNP: rs1669581856
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051817 SCV001215995 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2019-06-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the HADHA gene. It is expected to disrupt RNA splicing and likely results 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 with clinical features of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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.

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