ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)

gnomAD frequency: 0.00002  dbSNP: rs557260142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652033 SCV000773893 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 114 of the ACADVL protein (p.Glu114Lys). This variant is present in population databases (rs557260142, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 541716). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000652033 SCV002788199 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-05-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000652033 SCV002088746 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-09-01 no assertion criteria provided clinical testing

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