ClinVar Miner

Submissions for variant NC_000017.10:g.(?_14139889)_(15406546_?)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 RCV000707868 SCV000836978 pathogenic Charcot-Marie-Tooth disease, type I 2018-05-31 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the PMP22 gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Copy number gains of the PMP22 gene cause Charcot-Marie-Tooth type 1A (CMT1A) (PMID: 1677316, 1822787) and have been shown to lead to increased gene dosage as the functional defect in individuals with CMT1A (PMID: 1303230). For these reasons, this variant has been classified as Pathogenic.

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