ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) (rs1057516714)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410797 SCV000486099 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV000410797 SCV000949563 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys215*) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as heterozygous with second variant unknown in individuals affected with VLCAD deficiency (PMID: 9973285). ClinVar contains an entry for this variant (Variation ID: 370717). Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001008029 SCV001167761 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The c.644_647delGTCT pathogenic variant in the ACADVL gene has been reported previously in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al. 1999). The deletion causes the normal Cystine codon at position 215 to be replaced by a Stop codon, denoted p.Cys215Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000410797 SCV001364898 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.644_647delGTCT (NP_000009.1:p.Cys215Ter) [GRCH38: NC_000017.11:g.7221973_7221976delGTCT] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 9973285. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3
Natera, Inc. RCV000410797 SCV001455126 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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