ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.453+8A>G

gnomAD frequency: 0.00092  dbSNP: rs199919500
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000676685 SCV001045392 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144952 SCV001305576 uncertain significance Acyl-CoA dehydrogenase 9 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000676685 SCV001747371 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ACAD9: BP4, BS2
Revvity Omics, Revvity RCV001144952 SCV003822438 uncertain significance Acyl-CoA dehydrogenase 9 deficiency 2023-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938027 SCV004762500 likely benign ACAD9-related condition 2022-03-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676685 SCV000802481 uncertain significance not provided 2016-02-22 no assertion criteria provided clinical testing
Natera, Inc. RCV001144952 SCV001460355 likely benign Acyl-CoA dehydrogenase 9 deficiency 2020-06-04 no assertion criteria provided clinical testing

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