ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser)

gnomAD frequency: 0.00003  dbSNP: rs761452056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436426 SCV000516611 likely benign not specified 2015-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics RCV001335614 SCV001528800 uncertain significance Acyl-CoA dehydrogenase 9 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002524843 SCV003518905 uncertain significance not provided 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 221 of the ACAD9 protein (p.Asn221Ser). This variant is present in population databases (rs761452056, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ACAD9-related conditions. ClinVar contains an entry for this variant (Variation ID: 379494). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACAD9 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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