ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)

gnomAD frequency: 0.00001  dbSNP: rs756069599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001008 SCV001158115 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-01-27 criteria provided, single submitter clinical testing The ACADVL c.782T>C; p.Val261Ala variant (rs756069599), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 261 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Val261Ala variant is uncertain at this time.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001001008 SCV001365198 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.782T>C (NP_000009.1:p.Val261Ala) [GRCH38: NC_000017.11:g.7222206T>C] 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
Fulgent Genetics, Fulgent Genetics RCV001001008 SCV002778666 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-02-20 criteria provided, single submitter clinical testing
Invitae RCV001001008 SCV003472710 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-08-09 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 811260). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This variant is present in population databases (rs756069599, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 261 of the ACADVL protein (p.Val261Ala).

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