ClinVar Miner

Submissions for variant NC_000011.9:g.(?_68579885)_(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 RCV004580198 SCV005064201 pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-04-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the CPT1A gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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.

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