ClinVar Miner

Submissions for variant NC_000017.11:g.(?_15259084)_(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 RCV001032153 SCV001195460 pathogenic Charcot-Marie-Tooth disease, type I 2019-09-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-3 of the PMP22 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the PMP22 gene. This is expected to result in an absent or disrupted protein product. Similar copy number variants have been observed in individuals affected with hereditary neuropathy with liability to pressure palsies (HNPP) or Charcot-Marie-Tooth disease (CMT) (PMID: 18698610, 19543269, 20493460). Loss-of-function variants in PMP22 are known to be pathogenic (PMID: 23224996). For these reasons, this variant has been classified as Pathogenic.

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