ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.653dup (p.Val219fs)

dbSNP: rs755014798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065913 SCV001230903 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2021-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val219Glyfs*12) in the ACADSB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs755014798, ExAC 0.01%). This variant has not been reported in the literature in individuals with ACADSB-related conditions. Loss-of-function variants in ACADSB are known to be pathogenic (PMID: 20547083, 26284228). For these reasons, this variant has been classified as Pathogenic.
School of Computer Science,University of Waterloo RCV001065913 SCV001573237 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This is a frameshift variant in gene ACADSB that disrupts the protein NP_001600.1:p.Val219fs.

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