ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.668T>G (p.Leu223Ter)

dbSNP: rs2154000188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890053 SCV002144639 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-08-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This sequence change creates a premature translational stop signal (p.Leu223*) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268).

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