ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1414-1G>C (rs786204163)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168164 SCV000218825 pathogenic Spastic paraplegia 4, autosomal dominant 2014-11-11 criteria provided, single submitter clinical testing This sequence change affects a acceptor splice site in intron 11 and is expected to disrupt mRNA splicing. This sequence change has been reported in the literature and is not present in population databases. A Spanish hereditary spastic paraplegia (HSP) cohort study found this variant in one individual affected with uncomplicated HSP (age of onset was 30 years). cDNA synthesized from the patient was used to demonstrate that this sequence change results in skipping of exon 12 (PMID: 20932283), which is part of the the functionally important AAA domain in SPAST. For these reasons, this sequence change has been classified as Pathogenic.

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