ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.1053C>A (p.Tyr351Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003420741 SCV004106724 likely pathogenic ACADSB-related disorder 2023-01-27 criteria provided, single submitter clinical testing The ACADSB c.1053C>A variant is predicted to result in premature protein termination (p.Tyr351*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in ACADSB are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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