ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) (rs140566084)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241751 SCV000301523 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001122813 SCV000654950 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001122813 SCV001281577 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001122813 SCV001365175 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.308A>G (NP_000009.1:p.Lys103Arg) [GRCH38: NC_000017.11:g.7220796A>G] variant in ACADVL gene is interpretated to be Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001122813 SCV001473033 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2019-09-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508430 SCV001714577 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001122813 SCV001455122 benign Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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