ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.746del (p.Pro249fs)

dbSNP: rs779015128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Friend Way, National Innovation Center RCV003314489 SCV004013897 likely pathogenic See cases 2023-07-28 no assertion criteria provided clinical testing This rs779015128 is a frameshift mutation. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation (PMID: 17883863), developmental delay (PMID: 12837870). In our study, two children diagnosed with Autism Spectrum Disorder are carriers of this mutation.
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV003984356 SCV004800865 likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase no assertion criteria provided clinical testing PVS1+PM3

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