ClinVar Miner

Submissions for variant NC_000023.10:g.(?_103031754)_(103047548_?)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 RCV000474773 SCV000563826 pathogenic Hereditary spastic paraplegia 2 2016-05-22 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the PLP1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Whole gene duplication of PLP1 has been reported in many individuals affected with Pelizaeus-Merzbacher disease (PMID: 9634530, 10417279, 16380909, 18160035, 19328639). For these reasons, this variant has been classified as Pathogenic.

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