ClinVar Miner

Submissions for variant NM_000304.2(PMP22):c.(?_-1)_(*1_?)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 RCV000168441 SCV000219138 pathogenic Charcot-Marie-Tooth disease, type I 2015-09-14 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-5 of the PMP22 gene. This assay only includes exons 2-5 of PMP22, which covers the entire coding sequence. Therefore, it is assumed that the entire gene is duplicated. Duplications of the region on chromosome 17p11.2 which contain the PMP22 gene causes Charcot-Marie-Tooth type 1A (CMT1A) (PMID: 1677316, 1822787) and has been shown to lead to increased gene dosage as the functional defect in patients with CMT1A (PMID: 1303230). For these reasons, this variant has been classified as Pathogenic.

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