ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.669A>G (p.Leu223=)

gnomAD frequency: 0.00019  dbSNP: rs373563983
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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 RCV000532948 SCV000638101 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752939 SCV005367399 likely benign CPT1A-related disorder 2024-07-09 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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