ClinVar Miner

Submissions for variant NC_000011.9:g.(?_68525112)_(68582942_?)del

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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 RCV001946638 SCV002236665 pathogenic Carnitine palmitoyl transferase 1A deficiency 2021-04-21 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. A gross deletion of the genomic region encompassing the full coding sequence of the CPT1A gene has been identified. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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