ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr)

gnomAD frequency: 0.00003  dbSNP: rs965557488
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200722 SCV001365136 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1858G>A (NP_000009.1:p.Ala620Thr) [GRCH38: NC_000017.11:g.7224987G>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: BP4
Invitae RCV001200722 SCV001562350 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 620 of the ACADVL protein (p.Ala620Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 932781). 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.
Ambry Genetics RCV003293989 SCV003990105 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.1858G>A (p.A620T) alteration is located in exon 20 (coding exon 20) of the ACADVL gene. This alteration results from a G to A substitution at nucleotide position 1858, causing the alanine (A) at amino acid position 620 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001200722 SCV002088823 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-05-05 no assertion criteria provided clinical testing

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