ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2146+1G>A

dbSNP: rs794727219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724121 SCV000226868 pathogenic not provided 2014-07-15 criteria provided, single submitter clinical testing
Counsyl RCV000175394 SCV000790664 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765087 SCV004569369 pathogenic Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-07-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 of the HADHA gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HADHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 194917). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the HADHA protein in which other variant(s) (p.Thr745Serfs*8) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000175394 SCV005059669 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-12-17 criteria provided, single submitter clinical testing

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