ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.65G>A (p.Arg22Gln)

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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 RCV003069920 SCV003470709 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV004593151 SCV005079192 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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