ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) (rs202119704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196891 SCV000251021 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing p.Ile148Val (ATT>GTT): c.442 A>G in exon 4 of the ACAD9 gene (NM_014049.4). The I148V missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Isoleucine and Valine are uncharged, non-polar amino acids. This change occurs at a highly conserved position in the ACAD9 protein. In-silico analyses predict that I148V is damaging to the ACAD9 protein. Therefore, based on the currently available information, it is unclear whether I148V is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000329932 SCV000440757 uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of 2016-06-14 criteria provided, single submitter clinical testing

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