ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)

dbSNP: rs1597534120
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Total submissions: 3
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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 RCV001028002 SCV001365091 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1241A>C (NP_000009.1:p.Glu414Ala) [GRCH38: NC_000017.11:g.7223702A>C] 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: PM1, PM3, PP3, PP4
Baylor Genetics RCV001028002 SCV004212737 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-08-22 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028002 SCV001190765 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-02-05 no assertion criteria provided clinical testing

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