ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu)

gnomAD frequency: 0.00001  dbSNP: rs776331587
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053842 SCV001218124 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 239 of the ACADVL protein (p.Lys239Glu). This variant is present in population databases (rs776331587, gnomAD 0.04%). 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: 849808). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.
Ambry Genetics RCV002365702 SCV002662762 uncertain significance Inborn genetic diseases 2022-01-07 criteria provided, single submitter clinical testing The p.K239E variant (also known as c.715A>G), located in coding exon 8 of the ACADVL gene, results from an A to G substitution at nucleotide position 715. The lysine at codon 239 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480930 SCV004224307 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing PM2_supporting
Natera, Inc. RCV001053842 SCV001455128 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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