ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.328_340del (p.Gly110fs) (rs1410418105)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644894 SCV000766612 pathogenic Spastic paraplegia 4, autosomal dominant 2018-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly110Serfs*47) in the SPAST gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been reported in an individual affected with hereditary spastic paraplegia (PMID: 20562464). ClinVar contains an entry for this variant (Variation ID: 536443). 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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