ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)

gnomAD frequency: 0.00021  dbSNP: rs367705640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690439 SCV000818123 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-10-18 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 41 of the ACADVL protein (p.Ala41Thr). This variant is present in population databases (rs367705640, gnomAD 0.06%). 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: 569736). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000690439 SCV001364997 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.121G>A (NP_000009.1:p.Ala41Thr) [GRCH38: NC_000017.11:g.7220180G>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: BP6
Natera, Inc. RCV000690439 SCV001453210 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-10-28 no assertion criteria provided clinical testing

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