ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.315-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1458898996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670063 SCV000794876 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV001382534 SCV001581365 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2022-06-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects an acceptor splice site in intron 4 of the HADHA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). Disruption of this splice site has been observed in individuals with HADHA-related conditions (PMID: 19852779; Invitae). ClinVar contains an entry for this variant (Variation ID: 554431).
Baylor Genetics RCV000670063 SCV004191768 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-07-22 criteria provided, single submitter clinical testing

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