ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)

gnomAD frequency: 0.00011  dbSNP: rs143172658
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537897 SCV000654922 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000537897 SCV001288092 uncertain significance Very long chain acyl-CoA dehydrogenase 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000537897 SCV001365208 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1239A>G (NP_000009.1:p.Ile413Met) [GRCH38: NC_000017.11:g.7223700A>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV001508431 SCV001714579 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
GeneDx RCV001508431 SCV002031047 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25843429)
Ambry Genetics RCV003258873 SCV003945020 likely benign Inborn genetic diseases 2021-02-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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