ClinVar Miner

Submissions for variant NC_000011.9:g.(?_68527017)_(68527826_?)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 RCV003107526 SCV003794511 pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-04-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 17-18 of the CPT1A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant disrupts a region of the CPT1A protein in which other variant(s) (p.Gly710Glu) have been determined to be pathogenic (PMID: 11350182, 11350183). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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