ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.410del (p.Glu137fs) (rs1060502229)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477009 SCV000548911 pathogenic Spastic paraplegia 4, autosomal dominant 2017-08-01 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 1 of the SPAST mRNA (c.410delA), causing a frameshift at codon 137. This creates a premature translational stop signal (p.Glu137Glyfs*24) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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