ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)

gnomAD frequency: 0.00107  dbSNP: rs79530903
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123468 SCV000166805 benign not specified 2013-04-30 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224779 SCV000280835 likely benign not provided 2015-06-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000224779 SCV001113761 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001146901 SCV001307665 benign Acyl-CoA dehydrogenase 9 deficiency 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123468 SCV002548474 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001146901 SCV002802330 likely benign Acyl-CoA dehydrogenase 9 deficiency 2021-08-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001146901 SCV003799358 benign Acyl-CoA dehydrogenase 9 deficiency 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224779 SCV004155487 benign not provided 2023-11-01 criteria provided, single submitter clinical testing ACAD9: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915228 SCV004746019 benign ACAD9-related condition 2020-06-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001146901 SCV002081438 benign Acyl-CoA dehydrogenase 9 deficiency 2019-12-16 no assertion criteria provided clinical testing

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