ClinVar Miner

Submissions for variant NC_000011.9:g.(?_68560773)_(68564411_?)dup

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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 RCV001379585 SCV001577409 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2020-03-29 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 7-9 of the CPT1A gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CPT1A-related conditions. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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