ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)

gnomAD frequency: 0.00002  dbSNP: rs1240187200
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521619 SCV000618078 likely pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing The V705D variant has previously been reported as homozygous in an individual with mitochondrial trifunctional protein deficiency (Djouadi et al., 2015). This individual had significantly reduced long chain fatty acid oxidation in fibroblasts (Djouadi et al., 2015). The V705D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V705D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Counsyl RCV000674004 SCV000799273 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2018-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674004 SCV004191751 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674004 SCV002076493 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-08-17 no assertion criteria provided clinical testing

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