ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1925del (p.His642fs)

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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 RCV002796920 SCV003196602 pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His642Leufs*7) 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). 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 variant is not present in population databases (gnomAD no frequency).

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