ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.375dup (p.Glu126fs)

gnomAD frequency: 0.00037  dbSNP: rs756587384
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Total submissions: 3
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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 2023-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACADSB-related conditions. 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. Loss-of-function variants in ACADSB are known to be pathogenic (PMID: 20547083, 26284228). This variant is present in population databases (rs756587384, gnomAD 0.1%). ClinVar contains an entry for this variant (Variation ID: 659271). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000816249 SCV002021261 likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2021-11-10 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252248 SCV002522867 likely pathogenic See cases 2021-10-14 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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