ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.830_832AGA[1] (p.Lys278del) (rs769280599)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723470 SCV000331120 uncertain significance not provided 2016-04-07 criteria provided, single submitter clinical testing
Invitae RCV000271659 SCV000773902 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-12-16 criteria provided, single submitter clinical testing This variant, c.833_835del, results in the deletion of 1 amino acid(s) of the ACADVL protein (p.Lys278del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs769280599, ExAC 0.01%). This variant has been reported in several individuals affected with VLCAD deficiency (PMID: 9973285, 19327992, 23430950, 30194637). ClinVar contains an entry for this variant (Variation ID: 281042). For these reasons, this variant has been classified as Pathogenic.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000271659 SCV001364904 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.833_835delAGA (NP_000009.1:p.Lys278del) [GRCH38: NC_000017.11:g.7222257_7222259delAGA] 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

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