ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1435_1436AG[1] (p.Arg479fs) (rs864622268)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204013 SCV000259911 pathogenic Spastic paraplegia 4, autosomal dominant 2015-08-13 criteria provided, single submitter clinical testing This sequence change deletes two nucleotides from exon 12 of the SPAST mRNA (c.1437_1438delAG), causing a frameshift at codon 479. This creates a premature translational stop signal (p.Arg479Serfs*8) and is expected to result in an absent or disrupted protein product. Truncating variants in SPAST are known to be pathogenic. This particular truncation has been reported in a patient with hereditary spastic paraplegia (PMID: 12124993). For these reasons, this variant has been classified as Pathogenic.

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