ClinVar Miner

Submissions for variant NM_001609.3(ACADSB):c.375dup (p.Glu126fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816249 SCV000956748 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2018-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu126Argfs*7) in the ACADSB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs756587384, ExAC 0.08%). This variant has not been reported in the literature in individuals with ACADSB-related disease. Loss-of-function variants in ACADSB are known to be pathogenic (PMID: 20547083). For these reasons, this variant has been classified as Pathogenic.

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