ClinVar Miner

Submissions for variant NC_000017.10:g.(?_15133094)_(15164078_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pangenia Genomics, Pangenia Inc. RCV003226005 SCV003919731 pathogenic Charcot-Marie-Tooth disease, type IA 2022-10-14 criteria provided, single submitter research A copy number gain (copy number = 3) of the genomic region encompassing the full coding sequence of the PMP22 gene has been identified. Duplications of the region on chromosome 17p11.2 which contain the PMP22 gene cause Charcot-Marie-Tooth disease 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). It has also been observed to segregate with disease in related individuals.

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