ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89574826)_(89577020_?)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 RCV004582654 SCV005062244 pathogenic Hereditary spastic paraplegia 7 2023-04-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the SPG7 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG7 are known to be pathogenic (PMID: 21623769, 22964162). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPG7-related conditions.

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