ClinVar Miner

Submissions for variant NC_000002.12:g.(?_32126928)_(32128499_?)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 RCV000560513 SCV000645337 pathogenic Hereditary spastic paraplegia 4 2022-10-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8-9 of the SPAST gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with hereditary spastic paraplegia (PMID: 19423133, 25065914). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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