ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1063C>T (p.Gln355Ter)

dbSNP: rs1678826642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268317 SCV001447150 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094282 SCV005747287 pathogenic Hereditary spastic paraplegia 4 2024-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln355*) in the SPAST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SPAST-related conditions. ClinVar contains an entry for this variant (Variation ID: 987085). For these reasons, this variant has been classified as Pathogenic.

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