ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu)

gnomAD frequency: 0.00724  dbSNP: rs61731906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419074 SCV000512760 benign not specified 2017-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000525124 SCV000638095 benign Carnitine palmitoyl transferase 1A deficiency 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000525124 SCV001456360 benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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