ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.357C>T (p.Ile119=)

gnomAD frequency: 0.00015  dbSNP: rs138011726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603778 SCV000724862 likely benign not specified 2017-12-06 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 RCV000945719 SCV001091765 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945517 SCV004760595 likely benign CPT1A-related disorder 2020-10-27 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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