ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.676del (p.Ala226fs)

dbSNP: rs2071254166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200841 SCV001365142 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.676delG (NP_000009.1:p.Ala226ProfsTer30) [GRCH38: NC_000017.11:g.7222005del] variant in ACADVL gene is interpretated to be Likely pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PM1
Baylor Genetics RCV001200841 SCV005058085 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2024-02-18 criteria provided, single submitter clinical testing

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