ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs)

dbSNP: rs1558337136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707183 SCV000836268 pathogenic Hereditary spastic paraplegia 4 2018-04-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SPAST-related disease. 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn487Ilefs*44) in the SPAST gene. It is expected to result in an absent or disrupted protein product.

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