The relationship between ACADSB and 2-methylbutyryl-CoA dehydrogenase deficiency (autosomal recessive) was evaluated using the ClinGen Clinical Validity Framework as of March 12, 2019. Variants in ACADSB were first reported in humans with this deficiency as early as 2000 (Gibson, PMID: 10832746; Andresen, PMID: 11013134). The clinical significance of this disease is uncertain because almost 90% of patients are asymptomatic (Porta, 2019, PMID: 30730842). At least 15 variants have been reported in the literature (missense, nonsense, splicing). In summary, ACADSB is definitively associated with autosomal recessive 2-methylbutyryl-CoA dehydrogenase deficiency. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. The classification was approved by the ClinGen Aminoacidopathy Gene Curation Expert Panel on March 22nd, 2019.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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