ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)

gnomAD frequency: 0.00034  dbSNP: rs201370388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241261 SCV001414267 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 196 of the ACADVL protein (p.Ala196Val). This variant is present in population databases (rs201370388, gnomAD 0.1%). 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: 966547). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADVL protein function. 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.
GeneDx RCV001557654 SCV001779451 uncertain significance not provided 2021-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002357033 SCV002652505 uncertain significance Inborn genetic diseases 2021-09-26 criteria provided, single submitter clinical testing The p.A196V variant (also known as c.587C>T), located in coding exon 7 of the ACADVL gene, results from a C to T substitution at nucleotide position 587. The alanine at codon 196 is replaced by valine, 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.
Natera, Inc. RCV001241261 SCV002088756 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-11 no assertion criteria provided clinical testing

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