ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2004T>C (p.Ala668=)

gnomAD frequency: 0.00879  dbSNP: rs2228503
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185823 SCV000238772 benign not specified 2014-10-08 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 RCV000639505 SCV000761080 benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000639505 SCV003799808 benign Carnitine palmitoyl transferase 1A deficiency 2023-09-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718096 SCV005321450 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000639505 SCV001456355 benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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