ClinVar Miner

Submissions for variant NC_000017.11:g.(?_15239461)_(15260737_?)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 RCV000813337 SCV000953695 pathogenic Charcot-Marie-Tooth disease, type I 2018-09-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PMP22 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Approximately 80% of individuals with hereditary neuropathy with liability to pressure palsies (HNPP) have a 1.5Mb deletion at 17p11.2 (which includes PMP22) on one chromosome (PMID: 8894410, 20301566). Because deletions of PMP22 are a known mechanism of disease in HNPP, this sequence change has been classified as Pathogenic.

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