ClinVar Miner

Submissions for variant NC_000023.10:g.(?_103031924)_(103045526_?)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 RCV003111386 SCV003794200 pathogenic Hereditary spastic paraplegia 2 2022-10-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PLP1 gene has been identified. Loss-of-function variants in PLP1 are known to be pathogenic (PMID: 18470932). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individuals with Pelizaeus-Merzbacher disease (PMID: 1720927, 24139698). For these reasons, this variant has been classified as Pathogenic.

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