ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)

gnomAD frequency: 0.00001  dbSNP: rs760791287
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289249 SCV000331644 pathogenic not provided 2015-12-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001172542 SCV003808405 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001172542 SCV003836412 likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2022-03-23 criteria provided, single submitter clinical testing
Invitae RCV001172542 SCV004295738 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2023-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln99*) 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 (rs760791287, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ACADSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 281177). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001172542 SCV001335592 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2020-06-10 no assertion criteria provided literature only

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