ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)

dbSNP: rs2153997913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941664 SCV002229271 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CPT1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu444Thrfs*11) 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).
Baylor Genetics RCV001941664 SCV004211008 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-03-22 criteria provided, single submitter clinical testing

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