ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) (rs115532916)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198883 SCV000251025 pathogenic not provided 2013-05-13 criteria provided, single submitter clinical testing p.Ala326Pro (GCC>CCC): c.976 G>C in exon 10 of the ACAD9 gene (NM_014049.4). The A326P missense mutation in the ACAD9 gene has been reported previously in association with complex I deficiency. The amnio acid change is semi-conservative because both Alanine and Proline are uncharged, non-polar amino acids, but the introduction of a Proline with its unique ring structure could affect the secondary structure of the ACAD9 protein. This change occurs at a position in the ACAD9 protein that is highly conserved. The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000198883 SCV001221676 likely pathogenic not provided 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 326 of the ACAD9 protein (p.Ala326Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs115532916, ExAC 0.009%). This variant has been observed in several individuals affected with ACAD9-related disease (PMID: 21057504, 22200994, 22277967, 26669660, 30025539). ClinVar contains an entry for this variant (Variation ID: 30883). This variant has been reported to affect ACAD9 protein function (PMID: 25721401). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000023868 SCV001307664 benign Acyl-CoA dehydrogenase family, member 9, deficiency of 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM RCV000023868 SCV000045159 pathogenic Acyl-CoA dehydrogenase family, member 9, deficiency of 2010-12-01 no assertion criteria provided literature only

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