ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.838C>T (p.Gln280Ter) (rs1553314948)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516709 SCV000615399 pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV000821011 SCV000961750 pathogenic Spastic paraplegia 4, autosomal dominant 2018-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln280*) in the SPAST gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary spastic paraplegia (PMID: 24451228). ClinVar contains an entry for this variant (Variation ID: 448456). 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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