ClinVar Miner

Submissions for variant NC_000002.12:g.(?_32063826)_(32087584_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000258051 SCV000328217 pathogenic Hereditary spastic paraplegia 4 2015-11-20 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SPAST gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Gross gene deletion in SPAST are known to be pathogenic (PMID: 24451228, 17098887) . This particular entire gene deletion has been reported in the literature (PMID: 25421405). For these reasons, this variant has been classified as Pathogenic.

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