ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.127G>T (p.Glu43Ter) (rs573642949)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461473 SCV000548906 pathogenic Spastic paraplegia 4, autosomal dominant 2016-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 43 (p.Glu43*) of the SPAST gene. It is expected to result in an absent or disrupted protein product. Truncating sequence changes in SPAST are known to be pathogenic (PMID:20932283). This variant has been reported in a family affected with autosomal dominant hereditary spastic paraplegia (AD-HSP) (PMID: 17916079). For these reasons, this variant has been classified as Pathogenic.

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