ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) (rs759775666)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554101 SCV000654935 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-10-22 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 490 of the ACADVL protein (p.Ala490Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs759775666, ExAC <0.01%). This variant has been reported in individuals affected with known or suggested very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (PMID: 10077518, 14517516, 26453363). This variant is also known as A450P in the literature. Experimental studies have shown that this missense change reduces the association of ACADVL with the mitochondrial membrane (PMID: 17374501). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000554101 SCV000789050 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-12-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091165 SCV001247038 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000554101 SCV001364932 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1468G>C (NP_000009.1:p.Ala490Pro) [GRCH38: NC_000017.11:g.7224179G>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 9839948; 10077518. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000554101 SCV001571361 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2021-04-13 criteria provided, single submitter clinical testing

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