ClinVar Miner

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

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Total submissions: 2
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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).
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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