ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)

gnomAD frequency: 0.00061  dbSNP: rs141874052
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199017 SCV000251028 uncertain significance not provided 2019-12-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina RCV001146902 SCV001307666 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.
Baylor Genetics RCV001146902 SCV001528798 uncertain significance Acyl-CoA dehydrogenase 9 deficiency 2018-04-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000199017 SCV001678802 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000199017 SCV004226919 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907728 SCV004726768 likely benign ACAD9-related condition 2023-06-23 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).
Natera, Inc. RCV001146902 SCV001460357 likely benign Acyl-CoA dehydrogenase 9 deficiency 2019-10-28 no assertion criteria provided clinical testing

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