ClinVar Miner

Submissions for variant NM_014049.4(ACAD9):c.1594C>T (rs377022708)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200123 SCV000251037 likely pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The R532W variant in the ACAD9 gene has been reported previously as a homozygous mutation in a consanguineous family. Affected individuals presented with easy fatigability and exercise intolerance (Gerards et al., 2011). Functional studies comparing wildtype and mutant ACAD9 indicate the R532W variant is unable to restore complex 1 activity in mutant cell lines (Gerards et al., 2011). The R532W variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R532W 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 moderately conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function, supporting the functional importance of this region of the protein. The R532W variant is a good candidate for a disease-causing mutation, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000023869 SCV000045160 pathogenic Acyl-CoA dehydrogenase family, member 9, deficiency of 2012-04-01 no assertion criteria provided literature only

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