ClinVar Miner

Submissions for variant NC_000011.9:g.(?_68571448)_(68575126_?)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 RCV004580199 SCV005064202 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-08-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the CPT1A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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