ClinVar Miner

Submissions for variant NC_000001.11:g.(?_161305674)_(161309915_?)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 RCV001031032 SCV001194338 pathogenic Charcot-Marie-Tooth disease, type I 2019-06-21 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the MPZ gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number gain of MPZ has been reported to segregate with Charcot-Marie-Tooth (CMT) disease in a family (PMID: 21787890) and has been reported in individual(s) affected with CMT disease (PMID:26378787). For these reasons, this variant has been classified as Pathogenic.

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