ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)

gnomAD frequency: 0.00001  dbSNP: rs200117742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224548 SCV000280780 uncertain significance not provided 2015-05-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200778 SCV001365216 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1820G>A (NP_000009.1:p.Cys607Tyr) [GRCH38: NC_000017.11:g.7224877G>A] 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: PP3
Invitae RCV001200778 SCV001417240 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 607 of the ACADVL protein (p.Cys607Tyr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 235307). 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 with a positive predictive value of 95%. This variant disrupts the p.Cys607 amino acid residue in ACADVL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 32778825; Invitae; external communication). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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