ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.492G>A (p.Leu164=)

gnomAD frequency: 0.00034  dbSNP: rs200836324
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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 RCV000873677 SCV001015718 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873677 SCV001460479 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938329 SCV004753988 likely benign CPT1A-related disorder 2022-07-18 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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