ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)

gnomAD frequency: 0.00001  dbSNP: rs1567565733
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Total submissions: 3
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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 RCV001200833 SCV001365067 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1045G>A (NP_000009.1:p.Ala349Thr) [GRCH38: NC_000017.11:g.7222833G>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 RCV001200833 SCV002115566 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-03-14 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 349 of the ACADVL protein (p.Ala349Thr). This variant is not present in population databases (gnomAD no frequency). 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: 932870). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Baylor Genetics RCV001200833 SCV004216046 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-10-12 criteria provided, single submitter clinical testing

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