ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.829_831del (p.Glu277del) (rs796051913)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185735 SCV000238663 likely pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing The c.829_831delGAG variant in the ACADVL gene has been reported previously in a child with 26% of mean normal very long-chain acyl-CoA dehydrogenase (VLCAD) activity who was heterozygous for a single c.829_831delGAG mutation (Spiekerkoetter et al., 2010). This deletion of three nucleotides causes a deletion of a Glutamic Acid residue at codon 277, denoted p.Glu277del. This variant has also been seen numerous times in patients referred to GeneDx for ACADVL sequencing who were also heterozygous for another pathogenic variant in ACADVL. Therefore, we interpret c.829_831delGAG to be a pathogenic variant.
Invitae RCV000527513 SCV000654970 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-10-28 criteria provided, single submitter clinical testing This variant, c.829_831del, results in the deletion of 1 amino acid(s) of the ACADVL protein (p.Glu277del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs149680575, ExAC 0.03%). This variant has been observed in individual(s) affected with VLCAD deficiency (PMID: 23169530, 23430948, 27209629, 30194637). ClinVar contains an entry for this variant (Variation ID: 203589). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000527513 SCV001365200 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.829_831delGAG (NP_000009.1:p.Glu277del) [GRCH38: NC_000017.11:g.7222253_7222255del] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported.This variant dose not meet any evidence codes reported in the ACMG guidelines.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000185735 SCV001501153 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000527513 SCV001652751 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2021-05-18 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000527513 SCV001132831 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-01-29 no assertion criteria provided clinical testing

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