ClinVar Miner

Submissions for variant NC_000002.11:g.(?_86441116)_(86509365_?)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 RCV000471787 SCV000564028 uncertain significance Hereditary spastic paraplegia 31 2016-12-19 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-7 of the REEP1 gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been reported in the literature in a family affected with hereditary spastic paraplegia (PMID: 18321925). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exons is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on REEP1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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