ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89613046)_(89617037_?)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 RCV001963194 SCV002238510 pathogenic Hereditary spastic paraplegia 7 2022-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SPG7 protein in which other variant(s) (p.Ala510Val) have been determined to be pathogenic (PMID: 16534102, 18200586, 18799786, 22571692, 22964162, 23269439). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with hereditary spastic paraplegia (PMID: 25398481). This variant is a gross deletion of the genomic region encompassing exon(s) 11-13 of the SPG7 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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