ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1173C>T (p.Tyr391=)

gnomAD frequency: 0.00001  dbSNP: rs766657084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002180246 SCV002345648 likely benign Deficiency of butyryl-CoA dehydrogenase 2023-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893142 SCV004708438 likely benign ACADS-related disorder 2021-01-20 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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