ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1180del (p.Ala394fs)

dbSNP: rs1679263902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050492 SCV001214601 pathogenic Hereditary spastic paraplegia 4 2019-11-18 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 been observed in individual(s) with hereditary spastic paraplegia (PMID: 16832076). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala394Glnfs*2) in the SPAST gene. It is expected to result in an absent or disrupted protein product.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268359 SCV001447229 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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