ClinVar Miner

Submissions for variant NC_000017.10:g.(?_15133096)_(15165152_?)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 RCV000817927 SCV000958514 pathogenic Charcot-Marie-Tooth disease, type I 2019-08-06 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 cause Charcot-Marie-Tooth type 1A (CMT1A) (PMID: 1677316, 1822787). These reported duplications have 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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