ClinVar Miner

Submissions for variant NC_000002.12:g.(?_32114628)_(32114835_?)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 RCV001033197 SCV001196504 pathogenic Hereditary spastic paraplegia 4 2019-12-31 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the SPAST gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Similar copy number variants have been observed in individual(s) with spastic paraplegia (PMID: 17594340, 25065914). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic.

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