ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.1101G>A (p.Ala367=)

gnomAD frequency: 0.00010  dbSNP: rs145295182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904888 SCV001049441 likely benign Deficiency of 2-methylbutyryl-CoA dehydrogenase 2024-03-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707473 SCV005220821 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003912930 SCV004730107 likely benign ACADSB-related disorder 2021-09-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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