ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)

dbSNP: rs368951498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001381114 SCV001450928 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381114 SCV001579366 pathogenic Hereditary spastic paraplegia 4 2020-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This variant has not been reported in the literature in individuals with SPAST-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr55*) in the SPAST gene. It is expected to result in an absent or disrupted protein product.

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