ClinVar Miner

Submissions for variant NC_000002.12:g.(?_86337469)_(86337520_?)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 RCV000809985 SCV000950171 pathogenic Hereditary spastic paraplegia 31 2018-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in REEP1 are known to be pathogenic (PMID: 18321925, 18644145, 22703882). This variant has not been reported in the literature in individuals with REEP1-related conditions. This variant is a gross deletion of the genomic region encompassing exon 1 of the REEP1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the REEP1 gene. This is expected to result in an absent or disrupted protein product.

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