ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) (rs786204536)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169238 SCV000220512 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2014-07-16 criteria provided, single submitter literature only
GeneDx RCV000579295 SCV000680492 pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing The R229X nonsense variant in the ACADVL gene has been reported previously in association with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al., 1999; Gobin-Limballe et al. 2007). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000169238 SCV000932202 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg229*) 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 in individuals with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 27246109, 10384387, 17999356, 29552494). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 188884). Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). For these reasons, this variant has been classified as Pathogenic.

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