ClinVar Miner

Submissions for variant NC_000015.9:g.(?_44865725)_(44867259_?)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 RCV004583027 SCV005064101 pathogenic Hereditary spastic paraplegia 11 2023-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SPG11 protein in which other variant(s) (p.Val2053Met) have been determined to be pathogenic (PMID: 17717710, 19196735, 20110243, 24833714). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 31-32 of the SPG11 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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