ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.898A>G (p.Met300Val)

dbSNP: rs1026112888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665146 SCV000789215 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-01-25 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000665146 SCV001365055 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.898A>G (NP_000009.1:p.Met300Val) [GRCH38: NC_000017.11:g.7222686A>G] 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 RCV000665146 SCV003443756 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-08-16 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (PMID: 26385305, 27209629). ClinVar contains an entry for this variant (Variation ID: 550411). 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. This variant disrupts the p.Met300 amino acid residue in ACADVL. Other variant(s) that disrupt this residue have been observed in individuals with ACADVL-related conditions (PMID: 28871440, 32558070), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 300 of the ACADVL protein (p.Met300Val).

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